Clinical Nutrition in Gastrointestinal Disease

Alan Buchman, MD, MSPH

Chapter 25: Nutrition And Cystic Fibrosis (continued)

Elisabeth Luder, PhD

Cystic fibrosis (CF) is the most frequent lethal genetic disorder among Caucasians. The disease is caused by alterations of the CF transmembrane regulator (CFTR) protein, a cAMP-activated chloride channel located in the apical membrane of most secretory cells.1 Classic (severe) CF reflects two loss-of-function mutations in the CFTR gene and is characterized by chronic bacterial infection of the airways and sinuses, fat maldigestion due to pancreatic exocrine insufficiency, infertility in males due to obstructive azoospermia, and elevated concentration of chloride (90 to 100 mmol/L) in…