Genetics of Cystic Fibrosis - Part II

Abstract

Cystic fibrosis (CF) is an autosomal recessive disorder, which affects fluid transport in epithelial lining of the exocrine glands and causes defective functioning of the digestive, reproductive and respiratory organs. Classic symptoms of cystic fibrosis are typically obvious in early infancy and continue into the adulthood. Some of the symptoms include: abnormally thick mucus secretion and obstruction of the lungs, nose, sinuses as well as intestines; pancreatic insufficiency and malabsorption. In children, chronic respiratory infections and failure to thrive are the most common symptoms of cystic fibrosis. In adults, pancreatitis, liver cirrhosis and infertility are common in addition to respiratory infections. Although cystic fibrosis is eventually fatal, the life span of affected persons increased significantly due to developments of early testing methods and early institution of treatment. Cystic fibrosis results from mutation in the cystic fibrosis transmembrane regulator (CFTR) gene, which is located on chromosome 7.

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• Evolution of the cystic fibrosis gene
• Diagnostic and screening tests
• Treatment options

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