Cystic Fibrosis Flashcards
What is the most common inherited disease in Caucasians?
Cystic fibrosis
What type of genetic inheritance pattern does cystic fibrosis follow?
Autosomal recessive
On which chromosome is the CFTR gene located?
Chromosome 7
What is the most common mutation associated with cystic fibrosis?
delta-F508
What does the CFTR gene code for?
Cellular channels, particularly chloride channels
What is the result of the CFTR gene mutation in terms of mucus production?
Mucus becomes dehydrated and thickened
What are two respiratory effects of cystic fibrosis?
- Reduced mucociliary clearance
- Chronic inflammation and damage
What gastrointestinal complication can occur due to thick pancreatic secretions?
Pancreatic insufficiency
What is meconium ileus, and in which population is it commonly seen?
A condition where neonates do not pass meconium within 24 hours, leading to abdominal distension and vomiting
What reproductive issue is commonly seen in males with cystic fibrosis?
Congenital bilateral absence of vas deferens
What is a common symptom in older children with cystic fibrosis?
Chronic cough
What clinical test is used to screen for cystic fibrosis in newborns?
Newborn bloodspot test
What diagnostic test is considered the gold standard for cystic fibrosis?
Sweat chloride test
What chloride concentration in the sweat chloride test is diagnostic for cystic fibrosis?
> 60 mmol/L
What are two common organisms found in sputum cultures of cystic fibrosis patients?
- Staphylococcus aureus
- Pseudomonas aeruginosa
