CYSTIC FIBROSIS
It is also known as MUCOVISCIDOSIS (because the secretions in body especially the one in relation with the pancreas, are very thick and contribute to various manifestation) It is also known as EXOCRINOPATHY (because this condition is having the propensity to involve the exocrine gland) PATHOGENESIS : AUTOSOMAL RECESSIVE Defect chromosome 7 It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance receptor (CFTR) protein. In cystic fibrosis - Phenyl alanine present at 508th position is deleted so, most common mutation if F508 mutation CFTR protein malfunction leads multiple manifestations chloride channel is defective, as a result of which chloride/bicarbonate/water transport doesn't take place across it and due to this periciliary dehydration occurs and mucus becomes highly viscid Important organs involved in this conditions: Lungs GIT Pancreas - results in type 2 diabetic mellitus in future Liver - biliary stasis ...