Cystic Fibrosis: Incurable hereditary disease

Cystic fibrosis (CF) is one of the most common congenital metabolic diseases of the fair-skinned population. Due to a gene mutation, viscous mucus is formed in the glands of the body in the disease, which can only flow off poorly. This causes typical symptoms such as chronic bronchitis, indigestion and a deficiency of the pancreas. Cystic fibrosis is not curable, but with early consistent therapy, patients today have a life expectancy of over 40 years.

Gene defect as cause

In cystic fibrosis due to an altered gene on chromosome 7, a disturbed production of a channel on the cells of the body glands. As a result, certain salt components (chloride ions) and water can not be released or filtered out into the glandular secretions.

The result is an altered composition of the secretions: the sweat glands produce salty sweat, while the mucus in the lungs and intestine and the digestive juices of the pancreas are very viscous. This tough mucus, in particular, can only be removed by the bronchial cells with difficulty, which results in more difficult breathing and recurring infections.

Symptoms: respiratory tract particularly affected

Cystic fibrosis manifests itself through versatile symptoms that may vary depending on the gene mutation. The respiratory tract and lungs are usually severely affected. The viscous mucus formed by the bronchial glands can not be removed by the ciliary bristles of the bronchi, so that it is not coughed off despite chronic coughing.

This creates a secretion jam, which forms an ideal breeding ground for fungi and bacteria. As a result, there are recurrent infections such as pneumonia and chronic bronchitis. In addition, cystic fibrosis often causes paranasal sinus inflammation, as well as the mucus outflow from the paranasal sinuses is difficult.

Frequent inflammation damages and scartens lung tissue. As a result, the lung function decreases progressively. In the advanced stage patients often suffer from lung weakness and hypoxia.

Malnutrition due to indigestion

The digestive system is also usually impaired in cystic fibrosis. The secretion produced by the pancreas is also viscous and clogs the ducts of the gland.

This leads to the fact that the digestive enzymes contained in the secretion are not released into the small intestine and thus the food can not be sufficiently utilized. In patients with cystic fibrosis, therefore, there is often a lack of vitamins and growth disorders: Especially children are mostly underweight and clearly too small for their age. In addition, diarrhea, constipation or fatty stools can occur.

On the other hand, secretion in the pancreas damages glandular cells and replaces them with connective tissue. This leads in the long term to a loss of function of the pancreas, which can manifest itself through a chronic lack of digestive enzymes and diabetes mellitus.

Due to the tenacious bile, gallstones and gall bladder may also be present. Possible consequences of this may be liver inflammation and, in the further course, cirrhosis of the liver, which may show as jaundice (jaundice).

Infertility in cystic fibrosis

In addition to the respiratory tract and the digestive system in cystic fibrosis and the genitalia may be affected. In 98 percent of diseased men, the vas deferens are either glued or completely absent from birth. Both lead to the fact that the affected patients can not father children. Because sperm are produced in the testicles, but they can not be ejected in an ejaculation.

Affected women, however, usually have only a reduced fertility, as the mucus in the cervix is ​​tougher than in healthy and thus the sperm penetration. However, cystic fibrosis patients may naturally conceive children. However, artificial insemination may be an option for both sexes.

Bowel obstruction in babies as a first sign

In about 10 to 15 percent of all children with cystic fibrosis, bowel obstruction (meconium ileus) immediately before or after birth is the first sign of the disease. Undigested amniotic fluid components in conjunction with tough intestinal mucus lead to a sticking of the intestine. This is striking in that the newborns vomit and do not give off a first bowel movement (meconium, Kindspech). In addition, the belly is often bloated.

In order to remedy the intestinal obstruction, an enema with contrast agent is usually first performed under fluoroscopy. If the intestinal obstruction persists or complications occur, surgery is usually necessary.

Diagnosis of cystic fibrosis

Unlike many European countries, screening for cystic fibrosis in newborns is not standard in Germany. However, parents have the option of having their child examined at their own expense.

First, the content of a digestive enzyme of the pancreas - the so-called immunoreactive trypsin - is determined in the blood. If this test is positive twice, a sweat test (pilocarpine iontophoresis) is performed to confirm the diagnosis. The salt content in the sweat is measured. If this is significantly increased, this confirms the diagnosis of cystic fibrosis.

However, if the result of the tests is not clear, an additional potential difference measurement can be used. For this purpose, the electrical properties of a tissue sample from the nasal mucosa or the rectum are determined. If the disease cystic fibrosis before, the electrical potential on the mucosa is changed due to the disturbed water and salt balance of the cells.

Genetic tests provide certainty

Final safety brings a genetic examination of the blood, in which the gene mutation is detected in the genome. It also determines the nature of the mutation, which can provide more accurate information about the severity and severity of the disease.

A prenatal diagnosis of cystic fibrosis is only useful if there is already a sick child in a family or if a parent is a healthy carrier. By genetically examining amniotic fluid (amniocentesis) or a sample of the infantile part of the suckler pie (chorionic villus biopsy), a gene mutation in the pediatric genome can be detected.

Cystic fibrosis: heredity

The inheritance of cystic fibrosis follows a so-called autosomal recessive inheritance. This means that a person only gets CF when they inherit a chromosome 7 with a defective gene from their father and mother. In individuals who have an affected and a healthy chromosome in their genome, the disease does not come to the outbreak. However, they can pass on the defective gene to their children and are therefore referred to as healthy carriers of the disease.

Therapies for cystic fibrosis

Cystic fibrosis is not curable, but there are many therapies available today to treat the symptoms of each organ system:

  • For the respiratory system, the focus is on mucus-loosening procedures: physiotherapeutic treatments such as tapping massages and the learning of self-cleaning techniques such as autogenous drainage facilitate the transport of mucus from the lungs. In addition, regular inhalations with expectorant, antibacterial and bronchodilator drugs make sense. Patients with cystic fibrosis should also be aware of adequate fluid intake to liquefy the mucus.
  • Respiratory training and special exercises can improve the function of the lungs. With severely limited lung function, supportive oxygen therapy may be necessary. In some cases, however, the lung at the advanced stage of the disease is so severely damaged that a lung transplantation must be considered.
  • In order to treat and prevent infections, a consistent therapy with antibiotics is usually necessary.
  • The enzymes of the pancreas can be taken in the form of tablets to aid food utilization. Vitamin supplements and other dietary supplements can also counteract malnutrition.
  • In hepatic inflammation or bile duct impairment, medicines containing ursodeoxycholic acid may be taken to prevent liver cirrhosis.

Forecast: life expectancy has increased significantly

After cystic fibrosis was long considered a pure childhood disease, the life expectancy of patients has increased significantly in recent decades. Because early diagnosis and careful treatment can often prevent serious infections and subsequent damage to the organs. While most children died before the age of ten 30 years ago, newborns with cystic fibrosis now have a good chance of reaching the age of 40 years.

Improve efficiency with sports

Sport is not prohibited in cystic fibrosis; on the contrary, physical activity can have a positive effect on the course of the disease. For exercise can improve the resilience of the body and strengthen the lung function. Gentle endurance sports such as cycling or walking are generally suitable. However, sufferers should seek advice from their doctor before starting training.

The performance of cystic fibrosis varies greatly from person to person: Again and again there are reports of patients who are running a marathon thanks to consistent therapy and intensive training.

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