Pulmonology

Question 1

Laryngomalacia

• Laryngomalacia is the most common cause of infantile inspiratory stridor
• Pt: Noisy breathing on inspiration or chronic ________ stridor that worsens when ____ and improves when ______.
• Dx: Made clinically, can be confirmed by awake flexible laryngoscopy but in mild cases not always required.
• Tx:
  
  • Largely supportive. Close observation is sufficient. Cartilage becomes more rigid with age. Most children outgrow the disorder by ___ months of age.
  • In severe cases, can lead to poor growth/failure to thrive, respiratory distress, low oxygen saturations, persistent cyanosis, nighttime obstructive hypoxia occurs; these symptoms are sometimes alleviated by trimming the supraglottis.

Answer 1

Laryngomalacia

• Laryngomalacia is the most common cause of infantile inspiratory stridor
• Pt: Noisy breathing on inspiration or chronic inspiratory stridor that worsens when supine (and feeding, agitation) and improves when prone.
• Dx: Made clinically, can be confirmed by awake flexible laryngoscopy but in mild cases not always required.
• Tx:
  
  • Largely supportive. Close observation is sufficient. Cartilage becomes more rigid with age. Most children outgrow the disorder by 12-24 months of age.
  • In severe cases, can lead to poor growth/failure to thrive, respiratory distress, low oxygen saturations, persistent cyanosis, nighttime obstructive hypoxia occurs; these symptoms are sometimes alleviated by trimming the supraglottis.

Question 2

Tracheomalacia

• Pt: ________ stridor and/or monophasic wheezing
• Should be considered in infants who have recurrent wheezing that does not seem to be reactive.
• Tx:
  
  • Most infants with tracheomalacia will improve by ____ months of age and do not have respiratory compromise requiring ventilator support.
  • Critical tracheomalacia may require long-term intubation and mechanical ventilation.

Answer 2

Tracheomalacia

• Pt: Expiratory stridor and/or monophasic wheezing
• Should be considered in infants who have recurrent wheezing that does not seem to be reactive.
• Tx:
  
  • Most infants with tracheomalacia will improve by 18-24 months of age and do not have respiratory compromise requiring ventilator support.
  • Critical tracheomalacia may require long-term intubation and mechanical ventilation.

Question 3

Vascular Ring

- ______ stridor (more prominent on expiration) that improves w neck extension (decreased tracheal compression)

Answer 3

Vascular Ring

- Biphasic stridor (more prominent on expiration) that improves w neck extension (decreased tracheal compression)

Question 4

Vocal cord dysfunction or Paradoxical vocal cord motion (or inducible laryngeal obstruction or laryngeal dyskinesia)

• Path: ______of vocal cords during inspiration, or during inspiration and expiration, with preservation of posterior region of glottic opening known as “_____”
• Pt:
  
  • Episodes of dyspnea, wheezing, stridor, and/or throat/upper chest tightness.
  • Pts report having difficulty “getting air in”
  • Exercise-induced: Typically triggered by exertion
  • Symptoms mimic those of ______ but typically respond poorly to therapies
    • Symptoms that may help differentiate PVFD:
      
      • Stridor (or inspiratory “wheeze”) as opposed to wheezing (fine expiratory wheeze)
      • Difficulty in inspiration as opposed to expiration
      • Throat tightness as opposed to chest tightness
      • Onset of symptoms early during physical activity as opposed to late or after completion.
      • Vocal quality or pitch may change bc of narrowing of glottis.
      • Albuterol does not help relieve symptoms of VCD.
• Dx: Provocation of symptoms and direct laryngoscopic visualization of paradoxical vocal cord movement demonstrating adduction of vocal cords (during inspiration) with classic posterior chinklike opening
  
  • Failure to develop objective signs of airway obstruction on formal exercise testing, combined with characteristics flattened inspiratory arm of the flow-volume loop when symptomatic, are the findings most consistent with VCD as opposed to exercise-induced asthma
• Tx: Multidisciplinary approach to minimize laryngeal irritation and abort episodes when they occur.
  
  • ______ is 1st line therapy. ______ therapy. _______ for laryngeal dyspnea in refractory cases of VCD.

Answer 4

Vocal cord dysfunction or Paradoxical vocal cord motion (or inducible laryngeal obstruction or laryngeal dyskinesia)

• Path: Adduction of vocal cords during inspiration, or during inspiration and expiration, with preservation of posterior region of glottic opening known as “posterior glottic chink”
• Pt:
  
  • Episodes of dyspnea, wheezing, stridor, and/or throat/upper chest tightness.
  • Pts report having difficulty “getting air in”
  • Exercise-induced: Typically triggered by exertion
  • Symptoms mimic those of asthma but typically respond poorly to asthma therapies (albuterol)
    • Symptoms that may help differentiate PVFD from asthma:
      
      • Stridor (or inspiratory “wheeze”) as opposed to wheezing (fine expiratory wheeze)
      • Difficulty in inspiration as opposed to expiration
      • Throat tightness as opposed to chest tightness
      • Onset of symptoms early during physical activity as opposed to late or after completion.
      • Vocal quality or pitch may change bc of narrowing of glottis.
      • Albuterol does not help relieve symptoms of VCD.
• Dx: Provocation of symptoms and direct laryngoscopic visualization of paradoxical vocal cord movement demonstrating adduction of vocal cords (during inspiration) with classic posterior chinklike opening
  
  • Failure to develop objective signs of airway obstruction on formal exercise testing, combined with characteristics flattened inspiratory arm of the flow-volume loop when symptomatic, are the findings most consistent with VCD as opposed to exercise-induced asthma
• Tx: Multidisciplinary approach to minimize laryngeal irritation and abort episodes when they occur.
  
  • Speech therapy is 1st line therapy. Laryngeal control therapy. Botulinum toxin for laryngeal dyspnea in refractory cases of VCD.

Question 5

Vocal Cord Paralysis
⁃ Can be seen in infants with other neurologic abnormalities (eg Arnold-Chiari malformation, posterior fossa tumor, hydrocephalus) or following birth trauma (injury of recurrent laryngeal nerve caused by stretching the neck, intubation) or as complication of surgery (cardiothoracic and thyroid surgery or surgical repair of TEF)

Answer 5

Vocal Cord Paralysis
- Can be seen in infants with other neurologic abnormalities (eg Arnold-Chiari malformation, posterior fossa tumor, hydrocephalus) or following birth trauma (injury of recurrent laryngeal nerve caused by stretching the neck, intubation) or as complication of surgery (cardiothoracic and thyroid surgery or surgical repair of TEF)

Question 6

Subglottic stenosis

• 2nd most common cause of stridor
• Path: Contact of an endotracheal tube with airway structures can cause inflammation and subsequent scarring and stenosis.
• Infants with ______ syndrome have an increased incidence of congenital subglottic stenosis
• Dx: Direct laryngoscopy or bronchoscopy.
• Management: Referral to otolaryngologist

Answer 6

Subglottic stenosis

• 2nd most common cause of stridor
• Path: Contact of an endotracheal tube with airway structures can cause inflammation and subsequent scarring and stenosis.
• Infants with Down syndrome have an increased incidence of congenital subglottic stenosis
• Dx: Direct laryngoscopy or bronchoscopy.
• Management: Referral to otolaryngologist

Question 7

Epiglottitis (Supraglottis)
- Path: _______, a gram negative coccobacillus, is the most frequent cause of epiglottitis in unimmunized children, which is uncommon since routine immunization with Hib vaccine in 1987. Today, ________ is the most common cause of epiglottitis, followed by Strep pneumonia, strep pyogenes (GAS), and staph aureus.

• Do not try to visualize the pharynx unless it can be done without agitating the child and without a tongue blade.
  
  • Never use a tongue depressor on a symptomatic child; it can provoke airway spasm.
• Dx: Clinical
  
  • Secure airway first and then visualize cherry-red epiglottis with fiberoptic laryngoscopy for definitive diagnosis.
• Classic radiographic finding on lateral neck X ray is the “________”
• Tx:
  
  • Medical emergency.
  • 100% humidified oxygen. The most urgent priority in management is maintenance and stabilization of the airway with intubation.
  • Immediately transport the pt to the OR with a surgical team ready to perform a surgical airway. Management of spontaneous ventilation with inhalation induction with anesthetics and 100% oxygen is recommended.
• After secure airway, IV antibiotics can be initiated, recommended range 7-10 days for Hib epiglottitis.
  
  • A ______ is the tx of choice to cover H influenzae, GAS, and pneumococcus.
  • AND _______
    
    • When MRSA carriage is high, many use vancomycin as the antistaphylococcal agent.
• Chemoprophylaxis
  
  • ________ chemoprophylaxis is recommended for all household contacts of children with invasive Hib disease, in the setting of ______.
  • Rifampin chemoprophylaxis is recommended for all household contacts of children with invasive Hib disease, in the setting of ______.
  • Chemoprophylaxis is recommended for preschool and child care center contacts of children with invasive Hib disease if _____

Answer 7

Epiglottitis (Supraglottis)
- Path: Haemophilus influenzae type B, a gram negative coccobacillus, is the most frequent cause of epiglottitis in unimmunized children, which is uncommon since routine immunization with Hib vaccine in 1987. Today, nontypeable H influenza is the most common cause of epiglottitis, followed by Strep pneumonia, strep pyogenes (GAS), and staph aureus.

• Do not try to visualize the pharynx unless it can be done without agitating the child and without a tongue blade.
  
  • Never use a tongue depressor on a symptomatic child; it can provoke airway spasm.
• Dx: Clinical
  
  • Secure airway first and then visualize cherry-red epiglottis with fiberoptic laryngoscopy for definitive diagnosis.
• Classic radiographic finding on lateral neck X ray is the “thumbprint sign”
• Tx:
  
  • Medical emergency.
  • 100% humidified oxygen. The most urgent priority in management is maintenance and stabilization of the airway with intubation.
  • Immediately transport the pt to the OR with a surgical team ready to perform a surgical airway. Management of spontaneous ventilation with inhalation induction with anesthetics and 100% oxygen is recommended.
• After secure airway, IV antibiotics can be initiated, recommended range 7-10 days for Hib epiglottitis.
  
  • A 3rd generation IV cephalosporin (ceftriaxone or cefotaxime or cefuroxime) is the tx of choice to cover H influenzae, GAS, and pneumococcus.
  • AND Antistaphylococcal agents (clindamycin, oxacillin, cefazolin)
    
    • When MRSA carriage is high, many use vancomycin as the antistaphylococcal agent.
• Chemoprophylaxis
  
  • Rifampin chemoprophylaxis is recommended for all household contacts of children with invasive Hib disease, in the setting of at least 1 unimmunized or incompletely immunized contact <48 months age.
  • Rifampin chemoprophylaxis is recommended for all household contacts of children with invasive Hib disease, in the setting of at least 1 immunocompromised household contact, regardless of that contact’s age or immunization status.
  • Chemoprophylaxis is recommended for preschool and child care center contacts of children with invasive Hib disease if >=2 cases of invasive HIb disease occur at that site within 60 days.

Question 8

Croup (Laryngotracheobronchitis) (Subglottis)

• Path: Most commonly human _____ virus
• Radiographic evidence of subglottic narrowing of trachea (____ sign)
• Tx:
  
  • Mild (no stridor at rest)- ____
  • Moderate (stridor at rest) - ______
    
    • The main problem with this therapy is the rebound phenomenon, a recurrence of symptoms after the medication has worn off (after approx __ hours).

Answer 8

Croup (Laryngotracheobronchitis) (Subglottis)

• Path: Most commonly human parainfluenza virus
• Radiographic evidence of subglottic narrowing of trachea (steeple sign)
• Tx:
  
  • Mild (no stridor at rest)- Single dose of dexamethasone 0.5mg/kg (max 10mg) is beneficial
  • Moderate (stridor at rest) - Oral or IM Corticosteroids + nebulized Racemic epinephrine 0.05ml/kg (max 0.5mL)
    
    • The main problem with this therapy is the rebound phenomenon, a recurrence of symptoms after the medication has worn off (after approx 2 hours).

Question 9

Bacterial tracheitis (Bacterial laryngotracheobronchitis or membranous croup)

• Path:
  
  • Rare potentially life-threatening bacterial infection of the subglottic airway which leads to significant mucosal inflammation and purulent exudates which pose a significant risk for airway obstruction. This is almost ALWAYS ___________ which leaves subglottic and trachea mucosa susceptible to bacterial infection
  • Most episodes are polymicrobial in origin. ______ is the most frequently isolated species, with S pneumonia, S pyogenes, H influenza, and Moraxella catarrhalis seen as well
• Pt:
  
  • Patient with preceding URI coming to ED followed by rapid escalation of symptoms including fevers, cough (typically dry), tachypnea, and progressive _______ of acute upper airway obstruction. Commonly feel better ______ (distinguishing characteristic from retropharyngeal abscess).
• Dx: Clinical for presumptive diagnosis. Should always be considered in toxic appearing pt with high fevers and suspected croup who does not improve with steroids and racemic epinephrine. Gold standard is airway _________
  
  • It is differentiated from epiglottitis as patients with bacterial tracheitis are able to ______ and prefer to ______ rather than tripoding. Furthermore, lab work in bacterial tracheitis is typically notable for a leukocytosis.
  • Neck Xray may show steeple’s sign/subglottic narrowing, similar to croup, which is not specific nor sensitive
  • CXR are often nonspecific, but approx 50% will also have comorbid pneumonia.
• Tx:
  
  • Secure airway
  • IV antibiotics. _____ aimed at S aureas. Plus _______. Vancomycin is used if MRSA is common in community

Answer 9

Bacterial tracheitis (Bacterial laryngotracheobronchitis or membranous croup)

• Path:
  
  • Rare potentially life-threatening bacterial infection of the subglottic airway which leads to significant mucosal inflammation and purulent exudates which pose a significant risk for airway obstruction. This is almost ALWAYS secondary to a superimposed infection (most commonly from Influenza infection) which leaves subglottic and trachea mucosa susceptible to bacterial infection
  • Most episodes are polymicrobial in origin. Staph aureus is the most frequently isolated species, with S pneumonia, S pyogenes, H influenza, and Moraxella catarrhalis seen as well
• Pt:
  
  • Patient with preceding URI coming to ED followed by rapid escalation of symptoms including fevers, cough (typically dry), tachypnea, and progressive biphasic/inspiratory stridor of acute upper airway obstruction. Commonly feel better lying flat (distinguishing characteristic from retropharyngeal abscess).
• Dx: Clinical for presumptive diagnosis. Should always be considered in toxic appearing pt with high fevers and suspected croup who does not improve with steroids and racemic epinephrine. Gold standard is airway endoscopy/bronchoscopy
  
  • It is differentiated from epiglottitis as patients with bacterial tracheitis are able to swallow their secretions and prefer to lie flat rather than tripoding. Furthermore, lab work in bacterial tracheitis is typically notable for a leukocytosis.
  • Neck Xray may show steeple’s sign/subglottic narrowing, similar to croup, which is not specific nor sensitive
  • CXR are often nonspecific, but approx 50% will also have comorbid pneumonia.
• Tx:
  
  • Secure airway
  • IV antibiotics. Nafcillin aimed at S aureas. Plus 3rd generation cephalosporin. Vancomycin is used if MRSA is common in community

Question 10

Bronchiolitis

• Path: RSV is ___ virus of ____, ____is second to RSV
• Pt: URI symptoms (low-grade fever, runny nose, poor feeding) that progress to respiratory distress and hypoxia.
  
  • Lower respiratory tract symptoms occur on days 2-3 of the illness, peak at 4-5 days and gradually resolve within 2-3 weeks. May last up to 6 weeks.
  • ______ may occur, particularly in neonates who are born prematurely
• Tx:
  
  • Therapy generally consists of supportive measures, such as 1) IV or NG fluids (hydration is essential, allows for thinning of secretions),2) Nasal bulb suctioning w nasal saline, and/or 3) warm, humidified oxygen for sat <90%/92%.
  • Cardiorespiratory monitoring to detect further episodes of apnea.
  • NOT recommended: bronchodilators/albuterol, epinephrine, steroid therapy, nebulized hypertonic saline (could help w lower airway secretions), chest physiotherapy, antibiotics
  • Physicians should inquire about tobacco smoke exposure and advise caregivers about smoke cessation

Answer 10

Bronchiolitis

• Path: RSV is ssRNA virus of paramyxoviridae, Human metapneumovirus is second to RSV
• Pt: URI symptoms (low-grade fever, runny nose, poor feeding) that progress to respiratory distress and hypoxia.
  
  • Lower respiratory tract symptoms occur on days 2-3 of the illness, peak at 4-5 days and gradually resolve within 2-3 weeks. May last up to 6 weeks.
  • Apnea may occur, particularly in neonates who are born prematurely
• Tx:
  
  • Therapy generally consists of supportive measures, such as 1) IV or NG fluids (hydration is essential, allows for thinning of secretions),2) Nasal bulb suctioning w nasal saline, and/or 3) warm, humidified oxygen for sat <90%/92%.
  • Cardiorespiratory monitoring to detect further episodes of apnea.
  • NOT recommended: bronchodilators/albuterol, epinephrine, steroid therapy, nebulized hypertonic saline (could help w lower airway secretions), chest physiotherapy, antibiotics
  • Physicians should inquire about tobacco smoke exposure and advise caregivers about smoke cessation

Question 11

RSV PPX

• Ppx: ___ 15 mg/kg 1x/month to administer during 1st year of life, should be given 1st dose at onset of RSV season, every 28-30 days, to receive max of ___ monthly doses
  • Is MANDATORY for
    
    • _____
    • _____
    • _____
  • CAN be recommended for:
    
    • Infant <12mo with hemodynamically significant heart disease
      
      • (but NOT secundum ASD, small VSD, pulmonic stenosis, uncomplicated aortic stenosis, PDA, mild coarctation)
    • <24 mo who undergoes cardiac transplantation during RSV season
    • <12mo with either airway abnormalities or neuromuscular disorder impairing cough
    • <24 mo who is severely immunocompromised during RSV season

Answer 11

• Ppx: Palivizumab (Synagis) 15 mg/kg 1x/month to administer during 1st year of life, should be given 1st dose at onset of RSV season, every 28-30 days, to receive max of 5 monthly doses
  • Is MANDATORY for
    
    • <12mo born with chronic lung dx of prematurity (born <32+0weeks required >21% O2 for at least first 28 DOL)
    • Preterm born <29+0 (without chronic lung disease) who are <12mo of age at the onset of the RSV season
    • Babies <24mo with chronic lung disease who require medical therapy (O2, chronic corticosteroid, diuretic) within 6mo of the RSV season. Monthly ppx should be administered for the remainder of the season.
  • CAN be recommended for:
    
    • Infant <12mo with hemodynamically significant heart disease
      
      • (but NOT secundum ASD, small VSD, pulmonic stenosis, uncomplicated aortic stenosis, PDA, mild coarctation)
    • <24 mo who undergoes cardiac transplantation during RSV season
    • <12mo with either airway abnormalities or neuromuscular disorder impairing cough
    • <24 mo who is severely immunocompromised during RSV season

Question 12

Tracheal stenosis

- Retractions and dyspnea and have ____ stridor

Answer 12

Tracheal stenosis

- Retractions and dyspnea and have expiratory stridor

Question 13

Congenital pulmonary venolobar syndrome (Scimitar Syndrome)

• Rare disorder in which the pulmonary venous blood from all or part of the R lung returns to the IVC just above or below the diaphragm. It is a left (oxygenated blood) to right (deoxygenated blood) shunt.
• CXR may show shadow of veins, giving a scimitar-like (Turkish word) appearance.

Answer 13

Congenital pulmonary venolobar syndrome (Scimitar Syndrome)

• Rare disorder in which the pulmonary venous blood from all or part of the R lung returns to the IVC just above or below the diaphragm. It is a left (oxygenated blood) to right (deoxygenated blood) shunt.
• CXR may show shadow of veins, giving a scimitar-like (Turkish word) appearance.

Question 14

Pulmonary AV malformations (including pulmonary AV fistulas, aneurysms, and telangiectases)
- Path: Most common cause (70%) is autosomal dominant ___ aka ____

Answer 14

Pulmonary AV malformations (including pulmonary AV fistulas, aneurysms, and telangiectases)
- Path: Most common cause (70%) is autosomal dominant hereditary hemorrhagic telangiectasia (HHT) aka Osler-Weber-Rendu syndrome (involves multiple abnormalities of blood vessels in the skin, mucous membranes, and organs (eg lungs, liver, brain).

Question 15

Bronchogenic cysts

• Path: Result from abnormal budding of the tracheal diverticula of the foregut before 16 weeks gestation.
• Most common cysts in infancy. Are typically single, unilocular, and on the right. Most bronchogenic cysts are filled with mucus.
• Pt: Bronchogenic cyst may be prone to infection.

Answer 15

Bronchogenic cysts

• Path: Result from abnormal budding of the tracheal diverticula of the foregut before 16 weeks gestation.
• Most common cysts in infancy. Are typically single, unilocular, and on the right. Most bronchogenic cysts are filled with mucus.
• Pt: Bronchogenic cyst may be prone to infection.

Question 16

Congenital pulmonary airway malformation (CPAM)

• Intrapulmonary lesions are generally cystic in appearance.
• Dx:
  
  • Nearly 100% of CPAMs can be detected on antenatal ultrasound by a gestational age of 20 weeks.
  • CT of chest with IV contrast will provide additional definition of lung structure.
• Tx:
  
  • Some have no early symptoms or their symptoms are mild enough that they are not diagnosed until much later.
  • Those presenting in the newborn period with respiratory compromise may require surgical resection.

Answer 16

Congenital pulmonary airway malformation (CPAM)

• Intrapulmonary lesions are generally cystic in appearance.
• Dx:
  
  • Nearly 100% of CPAMs can be detected on antenatal ultrasound by a gestational age of 20 weeks.
  • CT of chest with IV contrast will provide additional definition of lung structure.
• Tx:
  
  • Some have no early symptoms or their symptoms are mild enough that they are not diagnosed until much later.
  • Those presenting in the newborn period with respiratory compromise may require surgical resection.

Question 17

Pneumonia

• Most common cause: Viral, Strep pneumo, H influenza.
• Pt:
  
  • Consider whether child has signs of respiratory distress:
    
    • Tachypnea
    • Subcostal retractions
    • Cough
    • Crackles
    • Decreased breath sounds.
  • Note: PPV of these signs are best if the child has fever or cyanosis, in addition to >2 of these signs
  • Without the presence of fever, the NPV of tachypnea is 97%. In other words, without fever, pneumonia is unlikely.
• Tx for outpatient therapy
  
  • Use ____ for ____ days.
  • For adolescents and school-aged children >___ years old, consider tx with ______ for 5 days to cover for mycoplasma pneumonia
  • Blood cultures are not routinely needed in outpatient setting, but they are recommended for inpatients with more severe pneumonia.
• Inpatient: CXR, blood culture, RVP, pulse ox. +/- CBC, ESR/CRP/procalcitonin
  
  • For fully immunized child with CAP: Moderate pneumonia: IV ______ 75 mg/kg/dose
    
    • If penicillin allergic: _______ 40mg/kg/DAY IV divided q8h
  • For children not fully immunized,_____. Monotherapy for unimmunized pts (HiB and S pneumo) 50-100mg/kg/DAY IV q12-24hrs, max 2g/DAY
  • For consideration of M pneumoniae and C pneumoniae, atypical pneumonia for children >____ years old, add empiric combination therapy with _____ in addition to beta-lactam abx

Answer 17

Pneumonia

• Most common cause: Viral, Strep pneumo, H influenza.
• Pt:
  
  • Consider whether child has signs of respiratory distress:
    
    • Tachypnea
    • Subcostal retractions
    • Cough
    • Crackles
    • Decreased breath sounds.
  • Note: PPV of these signs are best if the child has fever or cyanosis, in addition to >2 of these signs
  • Without the presence of fever, the NPV of tachypnea is 97%. In other words, without fever, pneumonia is unlikely.
• Tx for outpatient therapy
  
  • Use high dose amoxicillin 80-100mg/kg/day for 7-10 days.
  • For adolescents and school-aged children >5 years old, consider tx with azithromycin for 5 days to cover for mycoplasma pneumonia
  • Blood cultures are not routinely needed in outpatient setting, but they are recommended for inpatients with more severe pneumonia.
• Inpatient: CXR, blood culture, RVP, pulse ox. +/- CBC, ESR/CRP/procalcitonin
  
  • For fully immunized child with CAP: Moderate pneumonia: IV ampicillin 75 mg/kg/dose
    
    • If penicillin allergic: clindamycin 40mg/kg/DAY IV divided q8h
  • For children not fully immunized, 3rd generation cephalosporin (ceftriaxone or cefoaxime). Ceftriaxone monotherapy for unimmunized pts (HiB and S pneumo) 50-100mg/kg/DAY IV q12-24hrs, max 2g/DAY
  • For consideration of M pneumoniae and C pneumoniae, atypical pneumonia for children >5 years old, add empiric combination therapy with macrolide in addition to beta-lactam abx
    
    • Azithromycin

Question 18

Mycoplasma pneumonia

• Pt: A prodrome of headache, fever, and pharyngitis is classic. It usually has an insidious onset, with CXR appearing worse than the symptoms suggest.
  
  • Progression of persistent cough from dry to wet persisting for up to 4 weeks.
  • Typically have no sputum production, a nontoxic appearance.
• Dx: Definitive diagnosis is with____, and suggestive diagnosis is with positive ___ agglutinin titer
  
  • Dx: Nasal washing PCR for Mycoplasma antigen.
• Tx with ___ or ____.

Answer 18

Mycoplasma pneumonia

• Pt: A prodrome of headache, fever, and pharyngitis is classic. It usually has an insidious onset, with CXR appearing worse than the symptoms suggest.
  
  • Progression of persistent cough from dry to wet persisting for up to 4 weeks.
  • Typically have no sputum production, a nontoxic appearance.
• Dx: Definitive diagnosis is with IgM antibody (IgM-M-Mycoplasma), and suggestive diagnosis is with positive cold agglutinin titer
  
  • Dx: Nasal washing PCR for Mycoplasma antigen.
• Tx with macrolide or doxycycline.
  
  • Macrolide, or if >8yo, with tetracycline.

Question 19

Chlamydophila pneumoniae (formerly known as TWAR)

• Pt: Symptoms similar to Mycoplasma. Often there is a biphasic illness: Patients present with sore throat negative for group A strep, and 2-3 weeks later, pneumonia develops.
• Tx with ____ or a ____.

Answer 19

Chlamydophila pneumoniae (formerly known as TWAR)

• Pt: Symptoms similar to Mycoplasma. Often there is a biphasic illness: Patients present with sore throat negative for group A strep, and 2-3 weeks later, pneumonia develops.
• Tx with tetracycline/doxycycline or a macrolide.

Question 20

Pleural effusions

• Sterile effusions: Turbid, free flowing. pH >___, glucose >____mg/dL, PMN count <15,000 cells/uL, and negative microbiology.
• Empyema: Purulent appearance. pH less than ___, glucose less than ___, or pleural fluid:serum glucose ratio less than __ and LDH > ____ IU/L. Gram stain and culture may be positive
• Differentiate between exudative and transudative effusion w Light’s criteria
  
  • Criteria for ____ if meet any of 3
    
    • 1. The ratio of the ____
    • 2. The ratio of the _____
    • 3. The ____ (normal ~___U/L)
• If does not meet any of 3, is a transudate
• Management for effusions
  
  • Therapy should be directed based on the size of the effusion. An ultrasound is an effective means to evaluate the size of the effusion.
  • If the effusion is less than ___mm in size, then ___.
  • If there is a large effusion, then ____.
  • Chest tube drainage should be considered if the pleural effusion reaccumulates.
• Management
  
  • Management of most parapneumonic effusion centers around treatment of the underlying pneumonia, including providing supportive care, antibiotics, and oxygen if needed.
    
    • ______should be used empirically in all children with a parapneumonic effusion. This is especially important due to the increasing prevalence of MRSA.
  • Indications for insertion of a chest tube for a parapneumonic effusion include significant breathing impairment, impairments in oxygenation or ventilation, and overall declining clinical course.

Answer 20

Pleural effusions

• Sterile effusions: Turbid, free flowing. pH >7.3, glucose >60mg/dL, PMN count <15,000 cells/uL, and negative microbiology.
• Empyema: Purulent appearance. pH <7.3, glucose <40mg/dL, or pleural fluid:serum glucose ratio <0.5, and LDH >1000 IU/L. Gram stain and culture may be positive
• Differentiate between exudative and transudative effusion w Light’s criteria
  
  • Criteria for exudate if meet any of 3
    
    • 1. The ratio of the pleural fluid protein to serum protein is >0.5
    • 2. The ratio of the pleural fluid LDH and serum LDH is >0.6
    • 3. The pleural fluid LDH is >⅔ the upper normal limit of serum LDH (normal ~280U/L)
• If does not meet any of 3, is a transudate
• Management for effusions
  
  • Therapy should be directed based on the size of the effusion. An ultrasound is an effective means to evaluate the size of the effusion.
  • If the effusion is <10mm in size, then there is no need for drainage.
  • If there is a large effusion, then draining the effusion will help.
  • Chest tube drainage should be considered if the pleural effusion reaccumulates.
• Management
  
  • Management of most parapneumonic effusion centers around treatment of the underlying pneumonia, including providing supportive care, antibiotics, and oxygen if needed.
    
    • Vancomycin should be used empirically in all children with a parapneumonic effusion. This is especially important due to the increasing prevalence of MRSA.
  • Indications for insertion of a chest tube for a parapneumonic effusion include significant breathing impairment, impairments in oxygenation or ventilation, and overall declining clinical course.

Question 21

Asthma Predictive Index: likelihood of pediatric patient
less than __yo developing childhood asthma (on MD calc)

=>____ episodes of wheezing per year (strict criteria) / less than ___ episodes of wheezing per year (loose criteria) AND

• One major criteria
  
  • __
  • ___
• OR 2 minor criteria
  
  • ___
  • ___
  • ___

Data: If the child has a negative API, it is unlikely that the child will develop asthma by ____yo (95% negative predictive value). A positive API score by 3yo is associated with a 77% chance of active asthma in children aged 6-13 years with a specificity of 97%, whereas children with a negative API score by 3yo had <3% chance of developing asthma. 59% of children with +loose index had active asthma at school age 15yo. 76% of those with +strict index had active asthma at school age 15yo

Answer 21

Asthma Predictive Index: likelihood of pediatric patient <3yo developing childhood asthma (on MD calc)

• > 3 episodes of wheezing per year (strict criteria) / <3 episodes of wheezing per year (loose criteria) AND
• One major criteria
  
  • Parent with asthma
  • Child with diagnosis of eczema (atopic dermatitis)
• OR 2 minor criteria
  
  • Allergic rhinitis
  • > 4% blood eosinophils on CBC
  • Wheezing unrelated to colds/URIs

Data: If the child has a negative API, it is unlikely that the child will develop asthma by 6yo (95% negative predictive value). A positive API score by 3yo is associated with a 77% chance of active asthma in children aged 6-13 years with a specificity of 97%, whereas children with a negative API score by 3yo had <3% chance of developing asthma. 59% of children with +loose index had active asthma at school age 15yo. 76% of those with +strict index had active asthma at school age 15yo

Question 22

Modified Asthma Predictive Index: Predict future asthma in <3yo. 77% chance of asthma diagnosis at age 6yo

• > 4 wheezing episodes/year AND
• One major criteria
  
  • ___
  • ____
  • ____
• OR 2 minor criteria
  
  • ____
  • ____
  • ___

Answer 22

Modified Asthma Predictive Index: Predict future asthma in <3yo. 77% chance of asthma diagnosis at age 6yo

• > 4 wheezing episodes/year AND
• One major criteria
  
  • Parent with asthma
  • Pt has atopic dermatitis
  • Pt with aeroallergen sensitivity (as determined through positive skin tests or blood tests to allergens)
• OR 2 minor criteria
  
  • Wheezing unrelated to colds
  • Eosinophils >4% on CBC
  • Food allergy

Question 23

Allergic/Atopic triad: ___, ___, ___

Aspirin/Samter’s Triad: __, __, ___

Answer 23

Allergic/Atopic triad: atopy, allergy, asthma

Aspirin/Samter’s Triad: asthma, aspirin, nasal polyps

Question 24

Asthma

• In children >5yo, spirometry is recommended to demonstrate obstruction and reversibility. Reversibility is determined either by an increase in FEV1 >______% from baseline or by an increase of >____% of predicted FEV1 after inhalation of SABA.
• Obstructive disease: Obstruction is FEV1/FVC < 80%
• Tx:
  
  • Avoid triggers, smoking cessation
  • 1) Relievers: Short-acting beta-agonists: eg albuterol, levalbuterol
  • 2) Controllers:
    
    • Inhaled corticosteroids (eg budesonide or fluticasone)
    • Local adverse effects: Oral candidiasis and hoarseness. Risk is further diminished when children use spacers and rinse their mouth after inhaler use, thereby limiting the amount and absorption of orally deposited steroid.
    • Not associated:
      
      • Inhaled corticosteroids have no adverse effect on long-term growth in children.
      • Cataract formation has been associated with frequent or long-term systemic steroid administration, but not inhaler steroid usage.
  • Leukotriene receptor antagonists (eg montelukast or zafirlukast)
    
    • Leukotriene modifiers can be used as alternative therapy in children with mild persistent asthma, or as an add-on therapy for pts who still have poor-moderate control with medium-dose inhaled corticosteroids.
  • Long-acting beta-agonists (eg formoterol or salmeterol)
    
    • Note: When given alone, they increase morbidity. But when paired with an inhaled corticosteroid, they reduce morbidity; so, they are always paired with an inhaled corticosteroid.

Answer 24

Asthma

• In children >5yo, spirometry is recommended to demonstrate obstruction and reversibility. Reversibility is determined either by an increase in FEV1 >12% from baseline or by an increase of >10% of predicted FEV1 after inhalation of SABA.
• Obstructive disease: Obstruction is FEV1/FVC < 80%
• Tx:
  
  • Avoid triggers, smoking cessation
  • 1) Relievers: Short-acting beta-agonists: eg albuterol, levalbuterol
  • 2) Controllers:
    
    • Inhaled corticosteroids (eg budesonide or fluticasone)
    • Local adverse effects: Oral candidiasis and hoarseness. Risk is further diminished when children use spacers and rinse their mouth after inhaler use, thereby limiting the amount and absorption of orally deposited steroid.
    • Not associated:
      
      • Inhaled corticosteroids have no adverse effect on long-term growth in children.
      • Cataract formation has been associated with frequent or long-term systemic steroid administration, but not inhaler steroid usage.
  • Leukotriene receptor antagonists (eg montelukast or zafirlukast)
    
    • Leukotriene modifiers can be used as alternative therapy in children with mild persistent asthma, or as an add-on therapy for pts who still have poor-moderate control with medium-dose inhaled corticosteroids.
  • Long-acting beta-agonists (eg formoterol or salmeterol)
    
    • Note: When given alone, they increase morbidity. But when paired with an inhaled corticosteroid, they reduce morbidity; so, they are always paired with an inhaled corticosteroid.

Question 25

Asthma - Stage I Intermittent - Daytime sx <=__x/week - Night time sx <=__x/mo - SABA <=__ uses/week - <=__ exacerbations requiring corticosteroids per year - FEV1 80% - Tx: SABA as needed - Stage II Mild Persistent - Daytime symptoms >__d/week - Night time symptoms >___x/month - FEV1 80% - Tx: Inhaled corticosteroids are the most effective controller therapy for persistent asthma of any severity. - Leukotriene modifiers may be used as primary tx for mild persistent asthma in situations where parents refuse inhaled steroids or where the child will not use a MDI or neb for steroids. It is also appropriate as secondary or add-on therapy for more severe asthma, esp in the context of allergy as comorbidity. - Stage III Moderate Persistent - Daytime symptoms daily - Night time sx >1x/week but not nightly - FEV1 60-80% - Tx: Medium-dose corticosteroid or a low-dose corticosteroid with LABA - <4 yo: Use a medium-dose inhaled corticosteroid - 5-11 yo: Use either a medium-dose inhaled corticosteroid or a low-dose inhaled corticosteroid with an inhaled LABA, a leukotriene receptor antagonist, or theophylline - >12yo: Use a medium-dose inhaled corticosteroid or a low-dose inhaled corticosteroid plus LABA - Stage IV Severe Persistent - Daytime sx throughout day - Night time sx often 7x/week - FEV1 <60%

Answer 25

Asthma - Stage I Intermittent - Daytime sx <=2x/week - Night time sx <=2x/mo - SABA <=2 uses/week - <=2 exacerbations requiring corticosteroids per year - Difference between intermittent and mild persistent asthma is the “rule of 2s”: <2 daytime symptoms/week, <2 nighttime awakenings/month, <2 uses of SABAs/week, and <2 exacerbations requiring systemic steroids per year. If all are met, pt’s asthma can be classified as intermittent. - FEV1 80% - Tx: SABA as needed - Stage II Mild Persistent - Daytime symptoms >2d/week - Night time symptoms >2x/month - FEV1 80% - Tx: Inhaled corticosteroids are the most effective controller therapy for persistent asthma of any severity. - Leukotriene modifiers may be used as primary tx for mild persistent asthma in situations where parents refuse inhaled steroids or where the child will not use a MDI or neb for steroids. It is also appropriate as secondary or add-on therapy for more severe asthma, esp in the context of allergy as comorbidity. - Stage III Moderate Persistent - Daytime symptoms daily - Night time sx >1x/week but not nightly - FEV1 60-80% - Tx: Medium-dose corticosteroid or a low-dose corticosteroid with LABA - <4 yo: Use a medium-dose inhaled corticosteroid - 5-11 yo: Use either a medium-dose inhaled corticosteroid or a low-dose inhaled corticosteroid with an inhaled LABA, a leukotriene receptor antagonist, or theophylline - >12yo: Use a medium-dose inhaled corticosteroid or a low-dose inhaled corticosteroid plus LABA - Stage IV Severe Persistent - Daytime sx throughout day - Night time sx often 7x/week - FEV1 <60%

Question 26

Protracted bacterial bronchitis - Common cause of cough in children - Path: Most common etiologies: Nontypeable H influenzae, S pneumoniae, and M catarrhalis. - Pt: - Chronic wet cough. - Symptoms can be similar to asthma, but auscultation reveals ______ instead of wheezing - Does not respond to bronchodilator - Dx: Clinically in patient with ______ who otherwise is well appearing - CXR is usually ____ - Tx: 2-4 weeks of ____ or_____ - Recurrent PBB require investigation for underlying disorders such as ____ and _____

Answer 26

Protracted bacterial bronchitis - Common cause of cough in children - Path: Most common etiologies: Nontypeable H influenzae, S pneumoniae, and M catarrhalis. - Pt: - Chronic wet cough. - Symptoms can be similar to asthma, but auscultation reveals RHONCHI instead of wheezing - Does not respond to bronchodilator - Dx: Clinically in patient with prolonged wet cough who otherwise is well appearing - CXR is usually normal - Tx: 2-4 weeks of amoxicillin/clavulanate or 2nd/3rd generation cephalosporin - Recurrent PBB require investigation for underlying disorders such as cystic fibrosis and immune deficiencies

Question 27

Bronchiolitis Obliterans - Small bronchi and bronchioles are obstructed by intraluminal masses of fibrous tissue - Path: Commonly occurs following a lower respiratory tract infection, particularly with _______ serotypes 3, 7, or 21. - Pt: Typically, the infant recovers from the acute viral illness, only to have persistent (>60 days) ____ - Tx: _____

Answer 27

Bronchiolitis Obliterans - Small bronchi and bronchioles are obstructed by intraluminal masses of fibrous tissue - Path: Commonly occurs following a lower respiratory tract infection, particularly with adenovirus serotypes 3, 7, or 21. - Pt: Typically, the infant recovers from the acute viral illness, only to have persistent (>60 days) respiratory symptoms. - Tx: Supportive

Question 28

Cryptogenic Organizing Pneumonia (COP; formerly known as bronchiolitis obliterans with organizing pneumonia BOOP) - Alveolar septa are thickened by chronic inflammatory cell infiltrate - Pt: - Frequent present with numerous episodes of “bronchitis” that respond to antibiotics and then recur. - There are usually multiple cycles of bronchitis followed by antibiotics before you make a diagnosis Tx: ____ are beneficial, and a positive response helps distinguish from bronchiolitis obliterans.

Answer 28

Cryptogenic Organizing Pneumonia (COP; formerly known as bronchiolitis obliterans with organizing pneumonia BOOP) - Alveolar septa are thickened by chronic inflammatory cell infiltrate - Pt: - Frequent present with numerous episodes of “bronchitis” that respond to antibiotics and then recur. - There are usually multiple cycles of bronchitis followed by antibiotics before you make a diagnosis Tx: Corticosteroids are beneficial, and a positive response helps distinguish from bronchiolitis obliterans.

Question 29

Bronchiectasis - Dilation of the bronchi - Path: - _____ is the most common cause of clinically significant bronchiectasis - Primary ciliary dyskinesia - Aspiration - Primary immunodeficiency - Infection - Congenital lesion - Consider if a chronic wet cough persists after 4 weeks of antibiotic therapy - Dx: Diagnostic criteria (airway dilatation, bronchial wall thickening) are based on radiographic features of chest high-resolution CT (c-HRCT), which is the gold standard for the diagnosis. - Tx: Usually irreversible - Treatment includes bronchodilators with airway clearance. - Sometimes chronic antibiotic therapy is required to control colonization to prevent recurrent infections

Answer 29

Bronchiectasis - Dilation of the bronchi - Path: - Cystic fibrosis is the most common cause of clinically significant bronchiectasis - Primary ciliary dyskinesia - Aspiration - Primary immunodeficiency - Infection - Congenital lesion - Consider if a chronic wet cough persists after 4 weeks of antibiotic therapy - Dx: Diagnostic criteria (airway dilatation, bronchial wall thickening) are based on radiographic features of chest high-resolution CT (c-HRCT), which is the gold standard for the diagnosis. - Tx: Usually irreversible - Treatment includes bronchodilators with airway clearance. - Sometimes chronic antibiotic therapy is required to control colonization to prevent recurrent infections

Question 30

ARDS - Respiratory failure follows and is characterized by hypoxemia that does not improve with simple oxygen administration. - Baseline criteria include: - 1) ____ - 2)____ - 3) No evidence for cardiogenic or fluid overload cause of pulmonary edema. - 4) Exclusions include perinatal lung disease. Not a neonatal cause - PaO2/FIO2 is ___ (with BIPAP or CPAP >5cm) - Oxygenation index >____ - Mild ARDS = OI _-_ - Moderate ARDS = OI _-_ - Severe ARDS = >_ - Tx: - Provide lung protective-ventilatory support as needed. Improve alveolar recruitment by increasing _____ until O2 sat is adequate - Specific ventilatory strategy that protects the lungs from further injury by using ___ PEEP, low inflation pressures, ____ lung volumes (tidal volumes) (4-6 ml/kg) (to limit trauma to the lungs) and ___ FiO2.

Answer 30

ARDS - Respiratory failure follows and is characterized by hypoxemia that does not improve with simple oxygen administration. - Baseline criteria include: - 1) Acute onset (within 7 days of clinical insult) - 2) New infiltrates (unilateral or bilateral) on CXR or CT consistent with acute pulmonary parenchymal disease. - 3) No evidence for cardiogenic or fluid overload cause of pulmonary edema. - 4) Exclusions include perinatal lung disease. Not a neonatal cause - PaO2/FIO2 is <300 (with BIPAP or CPAP >5cm) - Oxygenation index >4 - Mild ARDS = OI 4-8 - Moderate ARDS = OI 8-16 - Severe ARDS = >16 - Tx: - Provide lung protective-ventilatory support as needed. Improve alveolar recruitment by increasing PEEP (to recruit and maintain open alveoli) until O2 sat is adequate - Specific ventilatory strategy that protects the lungs from further injury by using high PEEP, low inflation pressures, low lung volumes (tidal volumes) (4-6 ml/kg) (to limit trauma to the lungs) and low FiO2.

Question 31

Cystic fibrosis - Path: Mutation CFTR gene, ____inheritance? - The most common mutation (delta F508) in the CF gene is a 3-base pair deletion that leads to the loss of a single phenylalanine at position 508 - ____ chloride channels and ____ sodium pumps. - Pt: Characterized by elevated sweat chloride levels, persistent pulmonary infections, and insufficiency of the exocrine pancreas - Neonatal symptoms of CF are usually isolated of the digestive tract, presenting with pancreatic and intestinal pathology with steatorrhea (oily, foul smelling stools), meconium ileus, and FTT; rarely include pulmonary symptoms beyond nonspecific cough. - Recurrent sinopulmonary infections, sinusitis - Pulmonary disease is the leading cause of morbidity and mortality in patients with CF. - The child develops obstructive pulmonary disease - Most patients have chronic pulmonary infections with acute exacerbations. Early in the disease, the bacteria most commonly responsible for exacerbations are S aureus, H influenzae, and common gram-negative organisms such as Klebsiella. Later, ________ becomes the predominant organism. - CF is the most common cause of nasal polyposis in childhood and should be suspected - Digital clubbing occurs during 2nd decade of life - Pancreatic insufficiency and diabetes - Exocrine pancreatic insufficiency with fat malabsorption results in associated steatorrhea/diarrhea, FTT, gassiness/bloating, and deficiency of fat-soluble vitamins, including vitamins ADEK. - Vitamin E deficiency results in hemolytic anemia with elevated reticulocyte and indirect hyperbilirubinemia. Also, generalized weakness, decreased deep tendon reflexes, ataxia, visual changes - GI disorders: Meconium ileus, rectal prolapse. - Salt loss: Sweat glands produce a very high salt content, which is a hallmark in diagnosis. Sodium and chloride concentrations in a CF patient’s sweat are >___ mEq/L (normal is less than __ mEq/L). - Children with CF are at risk of experiencing hypochloremia, hyponatremia dehydration, metabolic alkalosis, and hypokalemia bc of excess loss of electrolytes with sweating. - Male infertility, obstructive azoospermia - Complications: - _______ - is a poor prognostic sign that suggests severe lung disease. - Hemoptysis - Pulmonary HTN - Constipation / Rectal prolapse - CF-related diabetes

Answer 31

Cystic fibrosis - Path: Mutation CFTR gene, autosomal recessive (1 in 4 risk for AR couple) - The most common mutation (delta F508) in the CF gene is a 3-base pair deletion that leads to the loss of a single phenylalanine at position 508 - Impermeable chloride channels and overactive sodium pumps. - Pt: Characterized by elevated sweat chloride levels, persistent pulmonary infections, and insufficiency of the exocrine pancreas - Neonatal symptoms of CF are usually isolated of the digestive tract, presenting with pancreatic and intestinal pathology with steatorrhea (oily, foul smelling stools), meconium ileus, and FTT; rarely include pulmonary symptoms beyond nonspecific cough. - Recurrent sinopulmonary infections, sinusitis - Pulmonary disease is the leading cause of morbidity and mortality in patients with CF. - The child develops obstructive pulmonary disease - Most patients have chronic pulmonary infections with acute exacerbations. Early in the disease, the bacteria most commonly responsible for exacerbations are S aureus, H influenzae, and common gram-negative organisms such as Klebsiella. Later, Pseudomonas aeruginosa becomes the predominant organism. - CF is the most common cause of nasal polyposis in childhood and should be suspected - Digital clubbing occurs during 2nd decade of life - Pancreatic insufficiency and diabetes - Exocrine pancreatic insufficiency with fat malabsorption results in associated steatorrhea/diarrhea, FTT, gassiness/bloating, and deficiency of fat-soluble vitamins, including vitamins ADEK. - Vitamin E deficiency results in hemolytic anemia with elevated reticulocyte and indirect hyperbilirubinemia. Also, generalized weakness, decreased deep tendon reflexes, ataxia, visual changes - GI disorders: Meconium ileus, rectal prolapse. - Salt loss: Sweat glands produce a very high salt content, which is a hallmark in diagnosis. Sodium and chloride concentrations in a CF patient’s sweat are >60 mEq/L (normal is <40 mEq/L). - Children with CF are at risk of experiencing hypochloremia, hyponatremia dehydration, metabolic alkalosis, and hypokalemia bc of excess loss of electrolytes with sweating. - Male infertility, obstructive azoospermia - Complications: - Pneumothorax - Pneumothorax is a poor prognostic sign that suggests severe lung disease. - Hemoptysis - Pulmonary HTN - Constipation / Rectal prolapse - CF-related diabetes

Question 32

Cystic fibrosis - Screening - Newborn screening for elevated ____ has become routine in all states. - 2nd tier of screening varies by state and either involves a repeat IRT or a DNA analysis. - Dx: - At least 1 characteristic clinical feature of cystic fibrosis - ____ - _____ - _____ - 1 of the following - Positive sweat test (gold standard): _____ levels (>___ mEq/L) via pilocarpine iontophoresis - Identification of ____ - Abnormal ____ - There are numerous reasons for false-positive (>60) but only 3 for false negative (<40): ____ (most common), ____, and ___. - False positives: - Malnutrition - Adrenal insufficiency - Autonomic dysfunction - Hypothyroidism - CAH False negatives: - Malnutrition - Dehydration - Hypoproteinemia - Technical issues: Dilution of sample, low sweat rate (QNS) - Peripheral edema

Answer 32

Cystic fibrosis - Screening - 1st tier of screening is with newborn screening, which employs a method of screening for immunoreactive trypsinogen (IRT), a pancreatic enzyme precursor known to be elevated in pts with CF. - Newborn screening for elevated blood immunoreactive trypsinogen (IRT) has become routine in all states. - 2nd tier of screening varies by state and either involves a repeat IRT or a DNA analysis. - Dx: - At least 1 characteristic clinical feature of cystic fibrosis - Typical features of CF (pulmonary disease, exocrine pancreas deficiency, salt loss in sweat, and/or male infertility) - CF in a sibling - Positive newborn screening test - 1 of the following - Positive sweat test (gold standard): 2 elevated sweat chloride levels (>60 mEq/L) via pilocarpine iontophoresis - Identification of 2 pathologic variants of CFTR mutation on genetic testing - Abnormal nasal potential difference in transepithelial measurements - There are numerous reasons for false-positive (>60) but only 3 for false negative (<40): Laboratory error (most common), edema due to hypoproteinemia, and rare CF mutations that do not result in sweat gland abnormalities. - False positives: - Malnutrition - Adrenal insufficiency - Autonomic dysfunction - Hypothyroidism - CAH - False negatives: - Malnutrition - Dehydration - Hypoproteinemia - Technical issues: Dilution of sample, low sweat rate (QNS) - Peripheral edema

Question 33

Cystic fibrosis - Management - Airway clearance - core therapy to manage and prevent airway obstruction - Exercise - Inhalation therapy - Can include bronchodilators, antibiotics, and mucolytic agents (N-acetylcysteine, 7% hypertonic saline, recombinant human DNase). - Prophylactic ______ therapy - Corticosteroids - _____ have provided the greatest benefit in prognosis. Treatment of exacerbations with _____ and _____ PLUS_____ drugs is paramount. - _____ (most common cause of death in CF) is an indication for bilateral lung transplantation. - ____- 1st therapy targeting basic cellular defect, is available for patients >2 years old. - It is a targeted CFTR function ____ for individuals with G551D and several other similar gating-type mutations - A combination of ivacaftor and lumacaftor (CFTR corrector) is used to treat the most common cause of CFTR mutation, which is 2 copies of F508del. It is approved for patients >12 years old. - Those with pancreatic insufficiency should also receive pancreatic enzyme replacement. - Fat-soluble vitamin supplementation A, D, E, and K are necessary. - Routine supplementation with ______ (dose determined by age) due to risk for hypochloremic hyponatremic dehydration because of excess epithelial sodium losses. - Supplementation must be increased in settings of excessive sweating, high ambient temperature or humidity, strenuous exercise, fever, vomiting, or diarrhea. - The patient’s level of fitness, even more than pulmonary function, correlates with longer survival.

Answer 33

Cystic fibrosis - Management - Airway clearance - core therapy to manage and prevent airway obstruction - Exercise - Inhalation therapy - Can include bronchodilators, antibiotics, and mucolytic agents (N-acetylcysteine, 7% hypertonic saline, recombinant human DNase). - Prophylactic macrolide therapy - Corticosteroids - Antibiotics have provided the greatest benefit in prognosis. Treatment of exacerbations with antistaphylococcal (eg nafcillin, cefazolin, vancomycin) and antipseudomonal (eg pip-tazo or cefepime PLUS ciprofloxacin or tobramycin) drugs is paramount. - End stage lung disease (most common cause of death in CF) is an indication for bilateral lung transplantation. - Ivacaftor (Kalydeco) - 1st therapy targeting basic cellular defect, is available for patients >2 years old. - It is a targeted CFTR function potentiator for individuals with G551D and several other similar gating-type mutations - A combination of ivacaftor and lumacaftor (CFTR corrector) is used to treat the most common cause of CFTR mutation, which is 2 copies of F508del. It is approved for patients >12 years old. - Those with pancreatic insufficiency should also receive pancreatic enzyme replacement. - Fat-soluble vitamin supplementation A, D, E, and K are necessary. - Routine supplementation with sodium chloride (dose determined by age) due to risk for hypochlloremic hyponatremic dehydration because of excess epithelial sodium losses. - Supplementation must be increased in settings of excessive sweating, high ambient temperature or humidity, strenuous exercise, fever, vomiting, or diarrhea. - The patient’s level of fitness, even more than pulmonary function, correlates with longer survival.

Question 34

Primary Ciliary Dyskinesia - Most are ____inheritance? - Path: - Ciliary abnormalities, including aplasia, akinesia, and dyskinesia (Normally, cilia beat synchronously at 7-22x/second) - Mutations in ciliary ____ arms lead to absent or dysmotile cilia and poor mucociliary clearance - Genetic mutation analysis- Genetic defect responsible for PCD (homozygous DNAH11 mutation) has been confirmed as being associated with ciliary ultrastructure. - Clinical manifestations: - Recurrent ____ +/- ____ syndrome (triad of ____, ____, and _____) - Half of patients have Kartagener syndrome - Hx of neonatal respiratory distress in >80% of affected individuals - Early neonatal period: Daily nasal congestion that is nonseasonal and may lead to chronic/recurrent sinusitis, chronic wet/productive cough - Early childhood: chronic otitis media or otorrhea often requiring tympanostomy tube placement, sinus disease, obstructive lung pattern - Situs ambiguus syndromes, including heterotaxy, isomerism, and congenital heart defects - Clubbing - Male infertility - 30% demonstrate normal ciliary ultrastructure and normal/near normal ciliary waveform - Ddx: Perinatal respiratory distress is a marker for PCD and not for immunodeficiency. - Dx: - Based on the 2018 Clinical Practice Guideline for diagnosis of PCD, the preferred test in a pt >5yo with at least 2 of 4 key clinical features and for whom ____ has been ruled out, is measurement of exhaled ______. - Low is found in both PCD and CF; therefore this test is only diagnostic of PCD when CF has been ruled out. Normal sweat chloride is less than 30 mMol/L. - 4 Clinical features: - Unexplained neonatal resp distress in term infant - Year-round daily cough beginning before 6mo - Year-Round daily nasal congestion before 6mo - Organ laterality defect

Answer 34

Primary Ciliary Dyskinesia - Most are AR - Path: - Ciliary abnormalities, including aplasia, akinesia, and dyskinesia (Normally, cilia beat synchronously at 7-22x/second) - Mutations in ciliary dynein arms lead to absent or dysmotile cilia and poor mucociliary clearance - Genetic mutation analysis- Genetic defect responsible for PCD (homozygous DNAH11 mutation) has been confirmed as being associated with ciliary ultrastructure. - Clinical manifestations: - Recurrent sinopulmonary infections (bronchitis or pneumonia) +/- Kartagener syndrome (triad of chronic sinusitis, bronchiectasis, and situs inversus totalis) - Half of patients have Kartagener syndrome - Hx of neonatal respiratory distress in >80% of affected individuals - Early neonatal period: Daily nasal congestion that is nonseasonal and may lead to chronic/recurrent sinusitis, chronic wet/productive cough - Early childhood: chronic otitis media or otorrhea often requiring tympanostomy tube placement, sinus disease, obstructive lung pattern - Situs ambiguus syndromes, including heterotaxy, isomerism, and congenital heart defects - Clubbing - Male infertility - 30% demonstrate normal ciliary ultrastructure and normal/near normal ciliary waveform - Ddx: Perinatal respiratory distress is a marker for PCD and not for immunodeficiency. - Dx: - Based on the 2018 Clinical Practice Guideline for diagnosis of PCD, the preferred test in a pt >5yo with at least 2 of 4 key clinical features and for whom cystic fibrosis has been ruled out, is measurement of exhaled nasal nitric oxide. - Low exhaled nitric oxide is found in both PCD and CF; therefore this test is only diagnostic of PCD when CF has been ruled out. Normal sweat chloride is <30 mMol/L. - 4 Clinical features: - Unexplained neonatal resp distress in term infant - Year-round daily cough beginning before 6mo - Year-Round daily nasal congestion before 6mo - Organ laterality defect

Question 35

Kartagener syndrome - _____Inheritance? - Pt: Recurrent infections (ie sinusitis, otitis, pneumonia), bronchiectasis, situs inversus totalis, and reduced male fertility

Answer 35

Kartagener syndrome - Autosomal recessive - Pt: Recurrent infections (ie sinusitis, otitis, pneumonia), bronchiectasis, situs inversus totalis, and reduced male fertility

Question 36

Alpha1-antitrypsin Deficiency (AATD) - ___inheritance? - Pt: - Suspect homozygous AATD in nonsmokers with early-onset _____ - Know that about 15% of persons with the homozygote PiZZ phenotype also get progressive_____ - the manifestation most likely to be seen in children. With cirrhosis, there is an increased incidence of ____. - Heterozygotes have no increase in pulmonary disease unless the individual _____ - in which case pulmonary disease can present similarly to homozygotes. - Tx: IV_______

Answer 36

Alpha1-antitrypsin Deficiency (AATD) - AR - Pt: - Suspect homozygous AATD in nonsmokers with early-onset emphysema with lower lobe predominance. - Know that about 15% of persons with the homozygote PiZZ phenotype also get progressive liver fibrosis and cirrhosis - the manifestation most likely to be seen in children. With cirrhosis, there is an increased incidence of hepatoma. - Heterozygotes have no increase in pulmonary disease unless the individual smokes - in which case pulmonary disease can present similarly to homozygotes. - Tx: IV alpha1-antitrypsin

Question 37

HEMOPTYSIS - Do a _____ in initial evaluation; however 33% of patients have a normal CXR - ______is the next step after bleeding is controlled - The finding of _____ is diagnostic for pulmonary source of bleeding - If the BAL is positive or there are suspicious findings on CXR, proceed to _____ if the diagnosis is not clear.

Answer 37

HEMOPTYSIS - Do a CXR in initial evaluation; however 33% of patients have a normal CXR - Bronchoscopy with bronchoalveolar lavage (BAL) is the next step after bleeding is controlled - The finding of hemosiderin-laden macrophages is diagnostic for pulmonary source of bleeding - If the BAL is positive or there are suspicious findings on CXR, proceed to chest CT with contrast if the diagnosis is not clear.

Question 38

Idiopathic Pulmonary Hemosiderosis (IPH) - Path: Recurrent pulmonary bleeding. When no underlying etiology for repeated hemorrhages occurs, it is called IPH - Pt: - Children present before 10 yo with either abrupt hemoptysis or a progressive course of anemia, dyspnea, fatigue, and recurrent cough and pink frothy sputum. - Most present with____ as the characteristic finding - Sputum or BAL show ____ - Dx: ____ to confirm and to exclude other specific pathology. - Tx: Use ______ in acute episodes, as well as chronically for patients with regular symptoms. However, the response varies, so if there is not a good response, use other immunosuppressants.

Answer 38

Idiopathic Pulmonary Hemosiderosis (IPH) - Path: Recurrent pulmonary bleeding. When no underlying etiology for repeated hemorrhages occurs, it is called IPH - Pt: - Children present before 10 yo with either abrupt hemoptysis or a progressive course of anemia, dyspnea, fatigue, and recurrent cough and pink frothy sputum. - Most present with iron deficiency anemia on CBC as the characteristic finding - Sputum or BAL show hemosiderin-laden macrophages - Dx: Lung biopsy to confirm and to exclude other specific pathology. - Tx: Use systemic corticosteroids in acute episodes, as well as chronically for patients with regular symptoms. However, the response varies, so if there is not a good response, use other immunosuppressants.

Question 39

Lymphocytic Interstitial Pneumonia | - LIP is considered an ____-defining illness in children.

Answer 39

Lymphocytic Interstitial Pneumonia | - LIP is considered an AIDS-defining illness in children.

Question 40

Sarcoidosis - Characterized by _____ epithelioid cell ____. - Pt: Mainly affects the ___, ___, ___, and ___. - ____ involvement is present in >90% of patients, with the most common symptoms being.... - 25% of patients have cutaneous involvement - ____ is a subtype of cutaneous sarcoidosis that presents with violaceous papules and plaques on the cheeks, nose, and ears - Associated with ____ which denotes a ____ prognosis! - Ocular lesions - Perform a slit-lamp exam on all pts to look for asymptomatic uveitis, which can lead to blindness - A familial form of sarcoidosis, ____ syndrome, typically presents with uveitis, rash, and “boggy” arthritis - Dx: __________ - It is imperative to exclude other granulomatous diseases (hypersensitivity pneumonitis, berylliosis, infectious diseases caused by mycobacteria and fungi). - Do a _____ of affected tissues and obtain material for histological exam and culture. - Best method for diagnosing sarcoidosis is by fiberoptic bronchoscopy with transbronchial or bronchial wall biopsies showing noncaseating granuloma. - Serum _____ level is often elevated during active disease. It is nonspecific and is considered of no use in diagnosis, but it is sometimes useful for monitoring progression of disease (controversial). - Tx: - 75% of sarcoid patients recover ______ - Rarely progresses to _____ or _____. - Treat severe disease with _____, which are the mainstay of treatment. - Corticosteroids do not induce remissions in sarcoidosis, although they do decrease the symptoms and improve PFTs. - Indications for systemic corticosteroids - Involvement of eyes - Heart conduction abnormalities - CNS involvement - Severe pulmonary symptoms - Severe skin lesions - Persistent hypercalcemia

Answer 40

Sarcoidosis - Characterized by noncaseating epithelioid cell granulomas. - Pt: Mainly affects the lungs, lymph nodes, eyes, and skin. - Pulmonary involvement is present in >90% of patients, with the most common symptoms being dry cough, dyspnea, and chest pain - 25% of patients have cutaneous involvement - Lupus pernio is a subtype of cutaneous sarcoidosis that presents with violaceous papules and plaques on the cheeks, nose, and ears - Associated with erythema nodosum, which denotes a good prognosis! - Ocular lesions - Perform a slit-lamp exam on all pts to look for asymptomatic uveitis, which can lead to blindness - A familial form of sarcoidosis, Blau syndrome, typically presents with uveitis, rash, and “boggy” arthritis - Dx: Diagnosis of exclusion. - It is imperative to exclude other granulomatous diseases (hypersensitivity pneumonitis, berylliosis, infectious diseases caused by mycobacteria and fungi). - Do a biopsy of affected tissues and obtain material for histological exam and culture. - Best method for diagnosing sarcoidosis is by fiberoptic bronchoscopy with transbronchial or bronchial wall biopsies showing noncaseating granuloma. - Serum angiotensin-converting enzyme (SACE) level is often elevated during active disease. It is nonspecific and is considered of no use in diagnosis, but it is sometimes useful for monitoring progression of disease (controversial). - Tx: - 75% of sarcoid patients recover without treatment. - Rarely progresses to pulmonary fibrosis or pulmonary HTN. - Treat severe disease with corticosteroids, which are the mainstay of treatment. - Corticosteroids do not induce remissions in sarcoidosis, although they do decrease the symptoms and improve PFTs. - Indications for systemic corticosteroids - Involvement of eyes - Heart conduction abnormalities - CNS involvement - Severe pulmonary symptoms - Severe skin lesions - Persistent hypercalcemia

Question 41

Spontaneous pneumothorax - Tx: Oxygen can be provided for pts who are tachypneic or hypoxic - Placement of chest tube is required for a pneumothorax that is large or causes significant symptoms. - Emergently relieve with chest tube placement

Answer 41

Spontaneous pneumothorax - Tx: Oxygen can be provided for pts who are tachypneic or hypoxic - Placement of chest tube is required for a pneumothorax that is large or causes significant symptoms. - Emergently relieve with chest tube placement

Question 42

Tension pneumothorax - Life-threatening condition - Pt: - Tracheal deviation toward the contralateral side, overexpansion of the affected side without chest excursion, muffled heart sounds, and other signs of hemodynamic compromise. - Hypotension, hypoxia, tachycardia, absent breath sounds, cyanosis, tracheal deviation away from the affected side - Dx: Clinical - Tx: - Immediate needle decompression (needle thoracostomy) with a large-bore angiocatheter (14 or 18 gauge) is indicated. - This procedure relieves the high pressure in the intrapleural space, but it does not resolve the pneumothorax, so a chest tube will be required.

Answer 42

Tension pneumothorax - Life-threatening condition - Pt: - Tracheal deviation toward the contralateral side, overexpansion of the affected side without chest excursion, muffled heart sounds, and other signs of hemodynamic compromise. - Hypotension, hypoxia, tachycardia, absent breath sounds, cyanosis, tracheal deviation away from the affected side - Dx: Clinical - Tx: - Immediate needle decompression (needle thoracostomy) with a large-bore angiocatheter (14 or 18 gauge) is indicated. - This procedure relieves the high pressure in the intrapleural space, but it does not resolve the pneumothorax, so a chest tube will be required.