Question

what is the etiology and pathogenesis of cystic fibrosis

Answer 1

Cystic fibrosis (CF) is a disease of exocrine gland function that involves multiple organ systems but results in chronic respiratory infections, pancreatic enzyme insufficiency and associated complication in untreated patient.

• Etiology
  • It is an autosomal recessive disorder.
  • It occurs due to defect in Cystic Fibrosis Transmembrane Conductance Regulatir gene or CFTR gene.
  • This gene control the water or salt movement in the cells of the body.
  • Sudden mutation or change can cause .
  • In this there is alteration in viscosity and tenacity of mucus produced at epithelial surface.
• Pathogenesis
  • It is due to mutation in CF gene on Chr 7.
  • CF encode a protein CFTR.
  • The abnormal CFTR protein in patient with CF leads to disruption of chloride channel on the cell.
  • Defective chloride transport cause more water and sodium reabsorption than normal.
  • Secretion affected organ become thick and viscous.
  • Which leads to obstruction of gland and ducts.
  • This in turn leads to dilatation of secretary glands
  • Then there is damage of exocrine gland.