- exocrine gland dysfunction caused by defective chloride ion transport that produces multi system involvement
- most common lethal genetic illness among caucasian children
- autosomal recessive trait
- children die from the pulmonary consequences
cystic fibrosis
- abnormal secretion of viscous dehydrated mucous from exocrine glands
- leads to mechanical obstruction in the respiratory, GI, and reproductive systems
CF
How do you diagnose CF?
- sweat test
- chest x-ray
- PFTs
- stool fat and/or enzyme analysis
- barium enema
- sputum culture
What are some signs and symptoms of respiratory complications associated with CF?
wheezing dry nonproductive cough emphysema patchy atelactasis cyanosis digital clubbing barrel chest nasal polyps
What is the respiratory progression/deterioration of CF?
decreased O2 and CO2 exchange occurs, resulting in hypoxia, hypercapnia, and acidosis
What is the further respiratory progression of CF?
chronic hypoxemia
pulmonary hypertension
pneumothorax
hemoptysis
What is the earliest manifestation of CF postnatal?
meconium ileus (viscous or gelatinous consistency)
What is the presentation of CF for GI?
- meconium ileus
- prolapse of rectum
- fecal impaction and intussusception
- wasting of tissues
- FTT
- weight loss with big appetite
For patients with CF what does impaired digestion and poor absorption lead to?
steatorrhea
azotorrhea
For a patient with CF what can happen to the pancreas?
-changes in islet of Langerhans which can cause CFRD cystic fibrosis related diabetes
What might a parent report about their child with CF sweat?
salty taste
due to sweat gland dysfunction - increased levels of sodium and chloride in sweat
What has increased the survival rate of CF?
organ transplant (heart, lung, liver, and pancreas)
