Cystic fibrosis

Cystic fibrosis or mucoviscidosis is an autosomal recessive metabolic disease characterized by the production of high salt sweat and secretion of mucus with abnormal viscosity.

The reason for this are mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene on chromosome 7, which lead to functional disturbances of a chloride channel. This causes a change in the composition of all secretions of exocrine glands.

The disease is chronic and as a rule progressive. Cystic fibrosis is usually found immediately after birth due to the absence of the first stool of the newborn (meconium ileus). Virtually every internal organ can be impaired in its function.

CF is a multi-system disease. On the one hand, the symptoms of the respiratory tract are in the foreground, because a disturbed secretion flow favors the occurrence of chronic infections with cough and resistant germ colonization. On the other hand, disturbed pancreatic and biliary secretions lead to indigestion and chronic damage of these organs. 

The patients suffer from a failure to thrive and a stunted growth. Less common are intestinal symptoms (obstructive syndromes) and liver cirrhosis. Diseased men are in most cases infertile as a result of azoospermia.

The morbidity and mortality are determined by the extent of bronchopulmonary involvement. Depending on the nature and severity of the mutation, the course and the severity of the disease varies greatly. 

The average life expectancy is about 30-40 years. The disease is currently not curable.