Cystic Fibrosis

Cystic fibrosis

It is a metabolic disease that is inherited as an autosomal recessive trait.

The cause of this metabolic disease is a mutation-related malfunction of chloride channels of certain body cells in humans. This changes the composition of all secretions of exocrine glands. The affected cells are thus unable to draw by osmosis water in the surrounding tissue.

As a result, the water content of the bronchial secretion and the secretions of the pancreas, the accessory sex glands, the liver (bile), the internal genitals, the small intestine and the sweat glands is too low. As a result, the secretions become viscous and there may be various dysfunctions in the affected organs.

Cystic fibrosis is therefore a multi-system disease.

To date, over 1900 different mutations are known. These can lead to a different expression of cystic fibrosis in those affected. In the fair-skinned population, cystic fibrosis is the most common autosomal recessive hereditary disease and also the most common lethal genetic disease.

Statistically speaking, a cystic fibrosis-affected child in this population group has about 2,000 live births. There are significant regional variations in the frequency of the metabolic disease.

In early childhood, the first symptoms are already evident. The always fatal disease cystic fibrosis is currently not curable – but can already be diagnosed prenatal.

Over the past decades, new treatment options have been established through medical advances. As a result, the average life expectancy of patients has increased significantly to around 40 years. Since the disease is the subject of intensive research, a further increase in life expectancy is possible in future thanks to new, personalized treatment concepts.

The two terms cystic fibrosis and cystic fibrosis describe different symptoms of one and the same disease. In English-speaking countries, in contrast to the German-speaking, the term cystic fibrosis instead of cystic fibrosis is used more.