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Mukoviszidose

The disease cystic fibrosis is also otien called cystic fibrosis. It is a metabolic disease that is inherited in an autosomal recessive manner.
This metabolic disease is triggered by a mutation that causes the chloride channels of certain cells in the human body to malfunction. This alters the composition of all secretions of exocrine glands. As a result, the affected cells are unable to draw water into the surrounding tissue by osmosis.

As a result, the water content of the bronchial secretions as well as the secretions of the pancreas, the accessory sex glands, the liver (bile), the internal genital organs, the small intestine and the sweat glands is too low. As a result, the secretions become viscous and various functional disorders can occur in the affected organs.

Cystic fibrosis is therefore a multisystem disease.
To date, over 1900 different mutations are known. These can lead to different forms of cystic fibrosis in those affected. In the fair-skinned population, cystic fibrosis is the most common autosomal recessive genetic disease and the most common lethal genetic disease.
Statistically, there is one child with cystic fibrosis for every 2000 live births in this population group. There are considerable regional fluctuations in the frequency of the metabolic disease.
The first symptoms appear in early childhood. There is currently no cure for cystic fibrosis, which is always fatal, but it can be diagnosed prenatally.
Over the last few decades, medical progress has enabled new treatment options to be established. As a result, the average life expectancy of sufferers has increased significantly to around 40 years. As the disease is the subject of intensive research, a further increase in life expectancy is possible in the 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 German-speaking countries, the term cystic fibrosis is more commonly used instead of cystic fibrosis.

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