Cystic Fibrosis Definition and Etiology

In CF, there is widespread dysfunction of exocrine glands that causes chronic pulmonary disease; pancreatic enzyme deficiency; intestinal obstruction in the neonate (distal intestinal obstruction syndrome); liver disease; infertility, especially in males; and abnormally high concentrations of electrolytes in sweat, resulting from the failure of salt reabsorption in the sweat gland ducts. This is the most common inherited disease in Caucasian populations. A gene located on chromosome 7, coding for the protein called cystic fibrosis transmembrane regulator (CFTR), is defective. CFTR acts as a cyclic-AMP-activated chloride channel blocker. More than 800 mutations of the gene have been identified, and they are categorized into five classes on the basis of CTFR alterations. The most predominant mutation, which accounts for approximately 70% of all the CTFR genes worldwide, is A508, but there is geographical variation and it is less common in non-white races.

Although previously this disease was considered lethal in childhood, the median survival for new-borns in the 1990s is predicted to be 40 years. Survival is largely dependent on the severity and progression of lung disease, and more than 90% of mortality is due to chronic bronchial infections and their complications. Patients with pancreatic insufficiency have a worse prognosis in terms of growth, pulmonary function, and long-term survival. The mortality of females is generally greater than that of males.

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