Cystic Fibrosis – CF
Cystic fibrosis (CF) is an autosomal recessive, multisystem disease. CF is characterized by recurrent lung infections, malabsorption, malnutrition, and male infertility. Cystic fibrosis is caused by thick and sticky mucus due to disturbances of salt homeostasis in cells.
CF is caused by mutations in the CFTR gene encoding cystic fibrosis transmembrane conductance regulator protein. The CFTR protein functions as a chloride channel expressed on epithelial cell membranes and controls the regulation of other transport pathways.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for family members of CF patients
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation