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 ...