Sweat Analysis and Cystic Fibrosis: A Golden Handshake
Journal Title: Journal of Medical Sciences - Year 2015, Vol 18, Issue 2
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.
Authors and Affiliations
Manzoor Raina, Mosin S Khan, Abdul H Raina, Mudassir Makhdoomi, Syed Mudassar
Keywords
Related Articles
- EP ID EP432575
- DOI -
- Views 60
- Downloads 0
Pulmonary Tuberculosis Presenting As Total Lung Consolidation and Acute Respiratory Failure An Unusual Presentation
Tuberculosis has varied clinical and radiological presentations, ranging from constitutional symptoms with segmental involvement to severe forms with multiple lobar consolidation and high mortality. Though uncommon, resp...
Study of the hepatobiliary and pancreatic ductal system abnormalities in children with hepatobiliary pancreatic ductal system disorders
BACKGROUND: Hepatobiliary and pancreatic disorders in children are infrequent and include duct malunion (APBD union), Extrahepatic biliary atresia (EHBA), Caroli's disease, primary sclerosing cholangitis, pancreas divisu...
Denosumab For The Treatment Of Bisphosphonate-Refractory Hypercalcemia Of Malignancy - A Case Report
Hypercalcemia of malignancy caused primarily by tumor-induced bone resorption may lead to renal failure, coma, and death. Patients treated with routine intravenous bisphosphonates may not respond or may relapse on therap...
Autophagy: Eat Yourself to Live
Autophagy is a metabolic process of consumption of the body's own tissues occurring in starvation and certain diseases. The field of autophagy has grown enormously over the past 1015 years, with rapid advances in our und...
Extrahepatic Biliary Atresia: The Importance of Early Referral
Extrahepatic biliary atresia (EHBA), characterized by obliteration or discontinuity of extrahepatic bile ducts, is still the major cause for liver transplantation among children nowadays [1]. All untreated children event...