Cystic Fibrosis: A Genetic Disorder

Cystic fibrosis (CF) is a genetic disorder affecting the lungs, liver, pancreas, kidneys and the intestine. It is characterized by frequent lung infections, which cause coughing up of mucus and difficulty in breathing. Other symptoms may consist of poor growth, sinus infections, clubbing of the fingers and toes, fatty stool, etc. Cystic fibrosis is usually caused due to the presence of mutations in both the copies of the gene responsible for the production of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. An individual with a single working copy of the gene is a carrier of cystic fibrosis. It is diagnosed through genetic testing and a sweat test. There is no known cure for cystic fibrosis. Antibiotics are given for treating lung infections and for deteriorating lung condition. Lung transplantation may be recommended in some cases. This book is compiled in such a manner, that it will provide in-depth knowledge about cystic fibrosis. The topics covered herein deal with the core aspects of this genetic disorder. For all readers who are interested in cystic fibrosis, the case studies included in this book will serve as an excellent guide to develop a comprehensive understanding.