Cystic Fibrosis | Cystic Fibrosis made easy
Cystic Fibrosis . if you want to understand the topic of cystic fibrosis , then this is best place for you. Because we teach medicine for preparation of exams. we will teach you core concepts of cystic fibrosis ...! What is Cystic Fibrosis? Cystic fibrosis is an inherited disorder that damages your lungs, digestive tract and other organs . Genetics: Autosomal recessive defect in CFTR gene on chromosome 7, commonly a deletion of Phe508. Most common lethal genetic disease in Caucasian population. Pathophysiology: CFTR encodes an ATP-gated Cl− channel that secretes Cl− in lungs and GI tract, and reabsorbs Cl− in sweat glands. Most common mutation is misfolded protein leading to protein retained in RER and not transported to cell membrane, causing decreased Cl− (and H2O) secretion, increased intracellular Cl− results in compensatory increase in Na+ reabsorption via epithelial Na+ channels (ENaC) leading to H2O reabsorption , hence abnormally thick mucus is secreted into