GI

Question 1

Polyposis syndromes: Peutz Jeghers

Answer 1

• when children have 5 or more juvenile polyps
• adenomatous polyps
• or family hx of polyposis or early colorectal cancer

Juvenile polyposis: Just polyps in GI tract

• 5 or more polyps = JPS
• referred for genetic testing
• surveillance yrly if polyps present

Peutz Jeghers:
+ freckling of mucocutaneous and hands/feet
polyps that frequently present as intussusception

Gardner: + desmoid tumors, osteoma, dental

Familial adenomatous polyposis: + desmoid tumors, osteoma, dental, hypertrophy of retinal pigment epithelium (eye shit)

ALL are AUTOSOMAL DOM
ALL are associated with certain cancers - need to be followed by Onc

Question 2

Irritable Bowel syndrome Tx

Answer 2

Tx: peppermint oil

DX: at least 3 days/month in the past 3 months without other etiology. pain may change with stooling pattern and may be relieved by defecation.

Question 3

Rectal Prolapse - screen for what disease?

Answer 3

CF

Causes of rectal prolapse:

• functional constipation and excessive straining
• chronic diarrhea
• CF (prevalence of rectal prolapse 19%!)

Question 4

juvenile Colonic Polyps

Answer 4

Juvenile colonic polyps are relative common
Present in 1st decade of life.
Can be associated with bleeding.

If LESS THAN 5 = okay.

If SOLITARY and NO ADENOMATOUS component - then there is no risk for cancer.

Question 5

Campylobacter

Answer 5

Most are self-limited and do not require tx.
Gram-Neg helical bacteria

Associated with ingestion of contaminated poultry or fecal material from pets, untreated water, unpasturized milk.

BUT treat if immunocompromised, chronically ill, pregnant, severe or prolonged (> 1 wk) sx.
AKA like in CF patients**

Tx:
Azithromycin**

Question 6

What condition is associated with achalasia?

Answer 6

Adrenal insufficiency!

Triple-A or Allgrove syndrome

• Achalasia
• Adrenal insufficiency
• Alacrima (reduced ability to secrete tears)
• Autonomic dysfxn (abnl sweating, orthostatic hypotension, altered heart rate)

Question 7

Autoimmune Hepatitis

Answer 7

Type I:

• 10-20 years, females
• ANA and Anti-SM

Type II:

• younger children
• more severe
• anti-liver kidney microsomal Ab is positive
• HYPERgammaglobulinemia
• fever, RUQ pain, jaundice, transaminases, bilirubins, GGT and Alk phos elevated
• Tx: immunosuppression

Question 8

Hirshsprung on barium enema

Answer 8

Aganglionic segment = Distal narrowed segment

Ganglionic segment = Proximal dilated segment

Question 9

Pyloric Stenosis

Answer 9

Pyloric Thickness > 4 mm
Overall Pyloric Length of > 18 mm

HypoK HypoCl Met Alkalosis

Question 10

Test to confirm biliary atresia

Answer 10

Intraoperative Cholangiogram
- if positive, proceed to Kasai procedure

Initial tests:

• Abd US
• HIDA
• Liver Biopsy

Question 11

DDX of neonatal unconjugated vs conjugated bilirubinemia

Answer 11

Unconjugated - messed up UGT1A1

• Crigler-Najjar
• Gilbert

Conjugated

• Dubin Johnson and Rotor - genetic defects that prevent exportation of bile from hepatocytes to bile
• Biliary atresia
• cystic fibrosis

Question 12

Hereditary Hemachromatosis

Answer 12

Iron overload disease

• high ferritin and transferrin**
• mutation in the HFE gene - hepcidin expression. Hepcidin is inversely proportional to iron

Sx: fatigue, malaise, abdominal pain, arthralgias, impotence, cardiomyopathy, and development of diabetes secondary to pancreatic overload.
Physical findings include hepatosplenomegaly, bronze discoloration of skin, and arthropathy.

Tx: phlebotomy, chelation with desferrioxamine

Question 13

Hepatitis A

Answer 13

flu-like symptoms + elevated liver enzymes
from endemic countries usually

EXCLUDED from work/school for 1 wk after symptom onset (shedding of hep A in stool diminishes significantly after 1 wk).

No post exposure prophylaxis

Hepatitis A does not induce a chronic carrier state, nor does it lead to chronic infection.

Question 14

What is a complication of UC that causes fatigue, pruritis, HSM, and elevated GGT?

Answer 14

Primary Sclerosing Cholangitis

• chronic inflam and fibrosis of intra and/or extra hepatic bile ducts
• MRCP to diagnose

Question 15

What is preferred diagnostic imaging modality for cholelithiasis, cholecystitis, or choledocholithiasis?

Answer 15

Ultrasound!!!

Cholelithiasis: colicky RUQ pain, shoulder pain, n/v
Cholecystitis: fever, RUQ pain, murphy’s
Choledocholithiasis: jaundice, acholic stools
Cholangitis: jaundice, AMS, shock

The risk for cholelithiasis is highest in children with chronic hemolytic anemia, obesity, or long-term exposure to parenteral nutrition.

Question 16

Cyclic Vomiting Syndrome

Answer 16

Functional disorder

• episodes of nausea and vomiting that last hours to days with return to baseline health btwn episodes
• 3-7 year olds

Tx: Cyproheptadine in those 5 or younger.
TCAs in those > 5

Question 17

Hepatitis B Serologies

Answer 17

file:///Users/vicky/Downloads/C245A.pdf

Question 18

Celiac Disease

Answer 18

Present after introduction of cereal and solids (btwn 6 to 24 months)

IgA antibodies against tissue transglutaminase

Abd pain, diarrhea, or FTT and vomiting

Dental enamel hypoplasia, short stature, dermatitis herpetiformis, recurrent aphthous stomatitis

Iron def anemia (due to malabsorption from villous atrophy), hypoproteinemia

Assoc. with T1DM, Thyroiditis and in Turner, Williams, and Downs

Question 19

Choledochal cyst - why should they be removed?

Answer 19

Risk of developing cholangiocarcinoma!

Question 20

Types of Esophagitis

Answer 20

Herpes - ulcerations that can coalesce with normal intervening mucosa (like reactivation when you’re on HD corticosteroids)

Candida - typically demonstrates white mucosal plaque-like lesions.

Eosinophilic esophagitis- multiple ring-like structures and/or small whitish papules representing eosinophilic abscesses.

Medication (pill-induced) esophageal injury - deep, singular ulceration(s) at points of stasis (especially near the carina) with sparing of the distal esophagus.

Barrett esophagus - long segments of columnar epithelium that extend above the esophagogastric junction. Columnar epithelium has a reddish color and velvet-like texture, whereas squamous epithelium has a more pale, glossy appearance. The squamocolumnar junction forms a visible line (the Z-line).

Question 21

Perinatal HCV - how to detect

Answer 21

NAA for HCV RNA (NOT DNA VIRUS!!!)

IgG is unreliable bc maternal IgG ab for anti-HCV is identified in infants up to 18 mo of age.

Should perform testing at 1-2 mo of age

Question 22

Hep B vs. Hep A

Answer 22

Hep B - more extrahepatic manifestations like arthralgia, rashes, thrombocytopenia

Both have - fever, general malaise, nausea, anorexia, jaundice, abdominal pain, tender hepatomegaly, and, in up to 10% of cases, splenomegaly.

Question 23

Gallbladder Hydrops

Answer 23

Gallbladder distension by sterile bile

- can be caused kawasaki!

Question 24

How to reduce cholestasis risk?

Answer 24

CYCLE THE TPN. Reduces insulin exposure allowing for mobilization of fat and decreased cholestasis

• increasing lipid content, GIR and trace minerals increases the risk of cholestasis.

Question 25

Hepatitis D needs what coinfection

Answer 25

it can not replicate without a coexisting infections with hepatitis B virus (HBV). Coinfection with HDV is more severe than having HBV alone. This coinfection can progress more rapidly to liver failure and cirrhosis. The diagnosis is confirmed with the presence of anti-HDV antibody.

Question 26

Celiac is associated with what conditiosn

Answer 26

``` *trisomy 21* diabetes mellitus Type 1 Williams syndrome Turner syndrome autoimmune thyroiditis selective IgA deficiency ``` 1st and 2nd degree relatives of individuals with celiac disease. Up to 16% of individuals with trisomy 21 have celiac disease.

Question 27

Celiac intestine biopsy shows

Answer 27

Flattened villi intraepithelial lymphocytes Crypts CF - normal intestine bx, has decreased fecal elastase

Question 28

Functional Abdominal Pain Syndrome

Answer 28

Pain is usually periumbilical The Rome III Criteria for the diagnosis of childhood functional abdominal pain syndrome are: 1) Episodic or continuous abdominal pain, 2) Insufficient criteria for other functional gastrointestinal disorders, 3) No evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the subject’s symptoms, 4) Criteria fulfilled at least once per week for at least 2 months prior to diagnosis.

Question 29

SMA syndrome

Answer 29

Loss of fat (such as in anorexia**) that causes the duodenum to be compressed by the SMA and abdominal aorta. Relief of symptoms when lying prone/left lateral decub/knee chest positions. Tx: NG or GJ tube past obstruction to allow for formula feeding and wt gain

Question 30

What is the most common cause of acute fulminant liver failure in US?

Answer 30

Drug hepatotoxicity

Question 31

What medication should you avoid giving to your child after varicella vaccine?

Answer 31

Salicyclates for at least 6 weeks due to risk of Reye syndrome

Question 32

PPIs increase the risk of ?

Answer 32

C diff diarrhea Also: - increased risk of PNA (reduction in gastric acid allows for pathogens to more easily colonize upper GI with potential to spread to lower resp tract) - malabsorption of vit B 12, iron, hypomag, ca

Question 33

Wilsons

Answer 33

Defective mobilization of Cu from lysosomes for excretion into bile. Elevated URINE Cu** and Cu accumulation in liver, brain, kidney, cornea Decreased serum ceruloplasmin Decreased serum cu (due to decreased ceruloplasmin) Elevated transaminases TX: D-penicillamine to chelate Cu. + pyroxidine supplmentation.

Question 34

Genetic Defects

Answer 34

PRSS1 - hereditary pancreatitis (leads to conversion of trypsinogen to trypsin while still in the pancreas rather than intestinal lumen) NOD2 - crohn's A1AT - hereditary liver disease JAG1 - Alagille syndrome

Question 35

C diff testing

Answer 35

Stool for C diff toxin (NOT CULTURE as this is unreliable and frequently falsely neg).