Cystic fibrosis, also known as cystic fibrosis, is a congenital metabolic disease. It is an autosomal recessive hereditary disease. This means that it only occurs if those affected have received an altered genetic make-up from both parents. The disease results in damaged organs.
Below you will find further information and selected cystic fibrosis specialists.
In cystic fibrosis, the CFTR gene on chromosome 7 is mutated. The mutation causes a lower water content of the secretions in the body.
Ultimately, it leads to severe impairment of various organ functions. This leads to permanent inflammation in the organs, which destroys the organs in the long term.
The following are often particularly affected
Cystic fibrosis cannot be cured. The average life expectancy of a person suffering from cystic fibrosis is around 32 years.
On average, one in 2,500 people develops cystic fibrosis. Cystic fibrosis is therefore a rather rare disease. At the same time, it is one of the most common congenital metabolic diseases.
The basic cause of cystic fibrosis is an abnormality in the genetic make-up, i.e. a genetic change. It is caused by the mutated CFTR gene on chromosome 7.
CFTR stands for "cystic fibrosis transmembrane conductance regulator". The mutation of the CFTR gene disrupts the salt and water balance of all glands in the body. These produce excessively viscous mucus, which damages the organs in the long term. The salt content, for example in sweat, is also significantly increased.
As a rule, cystic fibrosis only occurs if the affected person has received a mutated gene from both parents. If only one parent inherits the affected gene, the healthy gene of the other parent can "override" the diseased gene. The child therefore does not develop the disease itself, but it can pass on the diseased gene itself.
Illustration of autosomal recessive inheritance © Kashmiri, based on earlier work by Domaina: Autosomal recessive - en.svg, CC BY-SA 3.0
Cystic fibrosis can affect almost every organ. This is why it is considered a multi-organ disease.
The symptoms vary depending on the organ, which are listed below.
In the lungs, the viscous secretions block the bronchi. The secretions are difficult to remove and often become trapped. This permanently narrows the airways. Infections often develop as a result of the clogged mucus.
The bronchial tubes are gradually destroyed until the lungs finally fail.
Typical symptoms of cystic fibrosis in the lungs are
Intestinal obstruction in newborns is often the first sign of cystic fibrosis. In most cases, the intestinal contents are very viscous and only slightly fluid.
Typical symptoms of cystic fibrosis in the intestinal area are
The thick mucus in cystic fibrosis can also block the ducts of the pancreas. This results in a lack of digestive enzymes to break down food components in the intestine.
Typical symptoms of cystic fibrosis in the area of the pancreas are
Recurrent inflammation of the bile ducts and the formation of gallstones are also typical of cystic fibrosis. They occur due to the viscous bile secretion. A late consequence of this can be cirrhosis of the liver.
Almost all males with cystic fibrosis are infertile as the viscous mucus blocks the vas deferens.
Female patients, on the other hand, are generally fertile. However, it can also be impaired due to years of illness and blockage of the fallopian tubes.
The sweat of people with cystic fibrosis often tastes particularly salty.
There are now several methods for diagnosing cystic fibrosis.
A blood test is routinely carried out on newborn babies in hospital. If the immunoreactive trypsin (IRT value) is elevated, cystic fibrosis is suspected. In those affected, the salt concentration in the sweat is noticeably increased. The next step is therefore to carry out a so-called sweat test.
The meconium (the stool of newborns) is also examined for specific proteins. Furthermore, a DNA analysis can provide clear evidence and show the type of gene mutation.
However, the mutation of the CFTR gene can also remain undetected and undetermined due to the large number of mutations. In the area of early detection(prenatal diagnostics), unborn children can be tested for genetic changes in the CFTR gene. An amniocentesis is carried out for this purpose.
The affected organs, such as the lungs, are then examined using X-rays and other methods. Regular monitoring of the course of the disease is also necessary.
Cystic fibrosis cannot be cured. Therefore, doctors can only treat the symptoms of the disease.
However, starting treatment early in childhood is recommended. This can have a positive effect on the course of the disease and significantly increase the life expectancy of those affected.
Several organs are affected by mucosal viscidosis. Each defect must therefore be treated individually.
The following is an excerpt of the various treatment options for cystic fibrosis:
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