Sweat Analysis and Cystic Fibrosis : A Golden Handshake

Abstract

Cystic fibrosis (CF) is one of the most lethal, autosomal recessive, monogenic disorder that presents as a multisystem disease with significant morbidity and mortality in all parts of the world caused due to an abnormal transport of chloride ions across the apical membranes of epithelial cells. This autosomal recessive genetic disorder is caused by mutations of the CF transmembrane conductance regulator (CFTR) gene on chromosome 7 q31.2 ¹. The CFTR gene encodes the CFTR chloride-ion channel that is an essential component of epithelial ion transport systems in many organs, including the lungs, pancreas, intestinal tract, hepatobilliary tract, vas deferens and sweat glands. Cystic fibrosis (CF) affects exocrine gland function that involves multiple organ systems. Classical CF is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat chloride  electrolyte, meconium ileus and male infertility and associated complications in untreated patients ². JMS 2015; 18(2):134-137