Genetics Lecture

Question 1

What is cystic fibrosis

Answer 1

most common genetic disorder in caucasian individuals;

autosomal recessive- each carrier has a 25% chance to pass it on to a child

Question 2

Etiology of CF

Answer 2

CFTR is expressed in epithelial cells and this leads to a problem with moving secretions

Question 3

CF s/s

Answer 3

Pulmonary disease, pancreatice insufficiency/malabsorption (meconium ileus), salt loss syndromes, others (sinusitis, polyps)

Question 4

Making dgx for CF

Answer 4

Sweat test is the gold standard, elevated chloride is dgx of CF >60 mmol/L
Genetic testing confirms dgx after positive sweat test