Cystic fibrosis: symptoms, treatment

Cystic fibrosis is an inherited metabolic disease in which very thick and tough mucus is formed in various organs in the body. This makes normal function difficult. The disease is present at birth and is caused by an abnormal gene inherited from both parents. It is estimated that there are twelve hundred people in the Netherlands who have cystic fibrosis. About forty children are born with the disease every year. The disease is equally common in women and men.

Article content

  • Metabolism and metabolic diseases
  • Different names for cystic fibrosis
  • Cystic fibrosis or cystic fibrosis
  • Causes of cystic fibrosis or cystic fibrosis
  • Symptoms of cystic fibrosis or cystic fibrosis in a newborn (baby)
  • Symptoms of cystic fibrosis or cystic fibrosis that may occur later
  • Complications of cystic fibrosis or cystic fibrosis
  • Diagnosis of cystic fibrosis or cystic fibrosis
  • Heel prick examination cystic fibrosis, cystic fibrosis
  • Treatment of cystic fibrosis or cystic fibrosis
  • Can cystic fibrosis be prevented?
  • Prognosis of cystic fibrosis or cystic fibrosis

Metabolism and metabolic diseases

Metabolism, also called metabolism, is the sum of all chemical and physical processes that take place in the body. Think of recovery and the replacement of dead or damaged tissue, the production of energy. Metabolic diseases can be congenital, but can also occur later. Diabetes mellitus, PKU, gout and cystic fibrosis are examples of metabolic diseases.

Different names for cystic fibrosis

  • C.F
  • Cystic fibrosis
  • Cystic fibrosis
  • Cystic fibrosis

Cystic fibrosis or cystic fibrosis

Cystic fibrosis is a hereditary disease in which what is secreted by the body is thicker and abnormal . It is the most common serious hereditary disease in people from Europe. In the Netherlands, approximately 1 in 3600 newborns has the disease. In countries in Africa, for example, this is 1 in 17,000 babies. In cystic fibrosis, all glands that secrete fluid or mucus are affected, resulting in thick and abnormal secretions, especially in the lungs and pancreas.

Causes of cystic fibrosis or cystic fibrosis

Cystic fibrosis is caused by an abnormal gene . About 1 in 25 to 30 people have this gene and it is passed on in an autosomal recessive manner. The gene that is incorrect is located on chromosome number seven. The gene, called CFTR, contains the code for a protein that, among other things, is involved in the transport of salt from inside to outside the cell. If the gene is damaged, the protein made by the gene cannot do its job properly. If a damaged CFTR gene is present on one of both chromosomes, this is not so bad (although it can be passed on to offspring), but if someone has inherited a damaged CFTR gene from both the father and mother, health problems will arise. .

Symptoms of cystic fibrosis or cystic fibrosis in a newborn (baby)

You may notice the following in a newborn baby:

  • Sometimes a swollen abdomen;
  • The first days after birth, a baby does not pass stools.

Symptoms of cystic fibrosis or cystic fibrosis that may occur later

  • Gaining weight and growing does not happen at the normal speed;
  • The feces smell bad, are light in color, look greasy and float on the water in the toilet bowl;
  • Repeated coughing;
  • Respiratory infections occur again and again;
  • Suffer from a lot of sticky mucus.

Complications of cystic fibrosis or cystic fibrosis

  • Abscesses can form in the lungs.
  • A collapsed lung can occur.
  • Bronchiectasis can occur in the lungs, where the airways are abnormally dilated.
  • If the transition from the esophagus to the stomach does not work properly, this can lead to pain behind the breastbone or heartburn can be felt
  • With respiratory infections, people with cystic fibrosis may suffer from painful joints. The joints may be inflamed and swollen.
  • In hot weather, a person with cystic fibrosis may become dehydrated because the salt content in sweat is abnormally high.
  • About 3 in 100 children suffer from diabetes mellitus.
  • The paranasal sinuses can become chronically inflamed (sinusitis).
  • There is a greater chance of getting gallstones.
  • Damage to the liver may occur (cirrhosis).
  • If you have cystic fibrosis, this can cause psychological complaints. It is a chronic disease and can prevent you from doing everything you would like to do. It can lead to loneliness.
  • The vas deferens in almost all men with cystic fibrosis are closed or not formed. The man’s semen therefore contains no sperm. Men with cystic fibrosis are almost all infertile, although sexual functioning is normal. Women with cystic fibrosis may have slightly reduced fertility, but can still become pregnant.

Diagnosis of cystic fibrosis or cystic fibrosis

From May 1, 2011, all newborns in the Netherlands will be screened for cystic fibrosis using the heel prick . If the diagnosis is made early, this gives better prospects in the longer term. Damage to the lungs can then be partially prevented. A sweat test can be done to measure salt content. If the result is positive, the brothers and sisters can also be tested.

Heel prick examination cystic fibrosis, cystic fibrosis

The test is carried out with blood that is already taken during the heel prick. The results will almost always be known within four weeks. Various tests are done with the blood taken during the heel prick:

  1. IRT : biochemical test. IRT: Immuno Reactive Trypsinogen, it is a protein released from the pancreas when there is damage to the organ. In a newborn with cystic fibrosis, this protein is present at increased levels in the bloodstream.
  2. PAP : biochemical test. PAP: Pancreatitis Associated Protein. This protein is made by a pancreas under stress and not by a healthy pancreas. In a newborn with cystic fibrosis, this protein is present at increased levels in the bloodstream.
  3. DNA : if the IRT results and PAP results exceed a certain value, DNA testing is performed. The search is for the 35 most common mutations in the CF gene that influence the role of a transport protein in the cell wall.
  4. Extensive analysis of the gene : sometimes there is still uncertainty after the three steps described above. More research will then be done into all gene mutations that could possibly lead to cystic fibrosis.

Treatment of cystic fibrosis or cystic fibrosis

  • Slowing down damage to the lungs and a good nutritional status are important.
  • Physiotherapy to loosen mucus from the lungs. Adults and older children can be taught to do this themselves at home.
  • Antibiotics are given for a respiratory infection.
  • Older children are regularly given antibiotics by infusion to combat the bacteria in the lung mucus.
  • Sometimes inhaled medications help to make the mucus less viscous.
  • In case of serious damage to the lungs, a heart-lung transplant is possible.
  • A high-calorie diet to ensure normal growth in a child with cystic fibrosis. Also pancreatic enzymes and vitamin supplements.
  • Psychological guidance may be necessary for both children and parents. Particularly during puberty, a child can find it very difficult to deal with a chronic illness. Contact with a patient association can also be good.

Can cystic fibrosis be prevented?

Genetic research can be done to see if someone is a carrier. The abnormality can then be detected prenatally, if desired. If the disease runs in the family, adults can be tested. If you are the partner of someone with the disease, you can also get tested. If the result is positive, the options can be discussed. For example, IVF can be chosen.
Prenatal diagnosis : a chorionic villus test can be used to determine whether or not the fetus has the disease.
It is possible that cystic fibrosis can be treated with gene therapy in the future. The normal gene is then inserted into the lung tissue, for example, to prevent the disease from occurring.

Prognosis of cystic fibrosis or cystic fibrosis

Cystic fibrosis or cystic fibrosis cannot be cured to date. The life expectancy of people with cystic fibrosis varies, it mainly depends on the extent to which the disease has affected the lungs. The average life expectancy of people with cystic fibrosis has improved significantly in recent years, due to new approaches to treatment.