Cystic fibrosis is an autosomal recessive inherited metabolic disorder characterized by salt-enriched sweat production and mucus secretion of abnormal viscosity.
This is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene on chromosome 7, which lead to a malfunction of a chloride channel. This results in a change in the composition of all secretions of exocrine glands.
The disease is chronic and usually progressive. It usually becomes noticeable immediately after birth when the newborn's first stool fails to appear (meconium ileus). The function of practically every internal organ can be disturbed.
It is a multisystemic disease. On the one hand, respiratory symptoms are at the forefront, since a disturbed secretion flow favors the occurrence of chronic infections with coughing and persistent bacterial colonization. On the other hand, disturbed pancreatic and biliary excretion leads to digestive disorders and chronic damage to these organs.
Failure to thrive and short stature occur. Symptoms from the bowel (obstructive symptoms) and liver (cirrhosis) are rarer. In the vast majority of cases, affected men are infertile as a result of azoospermia. Morbidity and mortality are determined by the extent of bronchopulmonary involvement. The course of the disease varies greatly from person to person depending on the type and severity of the mutation.
The average life expectancy of those affected has increased significantly in recent years. According to the German Cystic Fibrosis Registry, it is now around 67 years. This improvement is mainly due to advances in therapy, in particular the use of CFTR modulators. Despite the significantly improved treatment options, the disease is currently incurable.