Abnormal function of epithelial chloride channel protein is the cause of:

 # Abnormal function of epithelial chloride channel protein is the cause of:

A. Ehlers Danlos Syndrome

B. Marfan Syndrome

C. Cystic fibrosis

D. Diabetes insipidus

The correct answer is C. Cystic fibrosis.

Cystic Fibrosis (Mucoviscidosis) Among the genetic paediatric disorders, cystis fibrosis is the most important. It is fundamentally a widespread disorder in epithelial transport affecting fluid secretion in exocrine glands and the epithelial lining of the respiratory, gastrointestinal, and reproductive tracts.

Cystic fibrosis follows simple autosomal recessive transmission. The primary defect is in the regulation of epithelial chloride transport by a chloride channel protein encoded by the cystic fibrosis gene. The impact of this defect in chloride transport differs in various tissues.