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Flashcards in Genetics Lecture Deck (4)
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1
Q

What is cystic fibrosis

A

most common genetic disorder in caucasian individuals;

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

2
Q

Etiology of CF

A

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

3
Q

CF s/s

A

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

4
Q

Making dgx for CF

A

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