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Cystic fibrosis: the most common monogenic disease in Europe

Cystic fibrosis: the most common monogenic disease in Europe



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Sounds scary - every 25th person in Europe carries some type of cystic fibrosis mutation. Living with the disease can be a serious challenge for patients, but cystic fibrosis can now be prevented by genetic screening.

Patients with lung disease are common in cystic fibrosis


The most common monogeneous genetic disorder in Europe is cystic fibrosis. The disease, which can seriously affect the lives of those affected, also has a "nickname": 65 mosquitoes are also referred to worldwide. they were also referred to as "sixty five roses" in terms of sound, but they were also adopted in other languages. In spite of its frequency, many people are not aware of the disease, nor have they heard of the symptoms, nor have they all had a 4% risk of carrying a cystic fibrosis mutation. However, illness can be filtered and filter aid can be responsible in family planning.What does it mean to be a monogenic disease?
It is a hereditary genetic disease that can be linked to a gene defect. There are genetic disorders more common than cystic fibrosis, such as Down's syndrome, but in these cases there is a chromosomal aberration in the background, not a genetic defect. people carry it in Europe: cystic fibrosis can have a variety of symptoms and affect many different organs. Illness, from mild to severe, can affect the functioning of the body in many ways. Because of this disease, the glands in the body produce much denser cells than normal, so it is life-threatening genetic disorder leads to lung infection, digestive problems, male infertility.General symptom of disease a very high sweat contentwhich sometimes causes the appearance of crystals on the patient's skin. The severity of the symptoms and the range of affected organ systems can vary, depending on the malfunctioning cause of the disease. In severe cases, the lungs, pancreas, and intestines are affected, and sometimes the disease affects only the pancreas or the reproductive organs. The lungs and the digestive organs were most often affected by the disease.There are signs and symptoms that help you to recognize the disease:
- very high sweat content
- Frequent coughing, sullen boiled voices
- frequent pneumonia, or lung diseases
- low height
- losing weight on good check
- digestive complaints
- New Year's Eve
- male infertility (azoospermia)

What is worth knowing about disease genetics?

Development of cystic fibrosis a CFTR gen mutations. This gene encodes a white codon that, when inserted into the cell cortex, acts as a chloride ion channel and is a membrane of the lung, liver, pancreas, intestine, reproductive tract, transduc mыkцdйsййrt. If a mutation occurs that interferes with, interferes with, or obstructs the functioning of this white, it will lead to the disease.It is important to know that every human being has two CFTR genes, one from the mother and the other from the father. If someone's gene from one parent is healthy, the other is a mistake, then carrier of cystic fibrosis. Because the carrier has only one defective gene, it will have no symptoms because the other gene from the other parent will do the job. Cystic fibrosis recessive genetic diseasewhich in practice means that in order for someone to be sick, they must all receive a defective gene from their parents. However, it is also important to know that if someone has not had this disease in the family so far, it does not mean that their child will not be ill either - this is the result of recessive illness - it is often unrecognized through generations, if both of your parents were carrying and they both received the error gene.

Why filter?

If you are pregnant with two children, there is a 25% risk of developing this serious illness in your child during each pregnancy. If at least one parent participates in a screening test with a negative result, their risk is significantly reduced. If someone is not carrying, and it turns out in a narrow row, there is very little chance that a sick child will have a baby. However, in the event that someone is carrying, it is also advisable to drop your partner because if you carry both, there is a 25 percent risk of having sick children. It is important to know that screening can be used to screen for 86-90% of these mutations. Pre-screening can help determine the risk of having a sick child. In the event that both are parents, genetic counseling can help you make the decision. Today, it is possible to carry out genetic examinations at fetal or embryonic age. However, if a couple carrying both of them is not involved in a clean, high-risk event, the birth of a seriously ill child will eventually reveal that they are both carrying. PGD ​​(preimplantation genetic diagnostics) it also avoids having a baby with two carriers: a special flask program helps to detect that the embryo has a defect in a few cells that have been removed from embryos that have begun to divide. Placing a healthy healthy embryo in the womb can prevent a sick child from having a baby, because embryos that do not all have a baby mutation need to be implanted. also suitable for removal of infertility reason. It is not uncommon for a cystic fibrosis mutation to be present in the background. Men's seminal cells are very sensitive to these genital defects, but few can be told by doctors, so they don't last too long. All male infertility is caused by 1-2 percent CFTR mutation, but the so-called obstructive azoospermia esetйben (there is some ondуъti elzбrуdбs causes meddхsйget) you have already jуval greater szбmrуl beszйlьnk, it йrintettek 30 szбzalйkбnбl CFTR mutбciуkhoz kцthetх the problйma.Amennyiben CFTR mutбciу causes fйrfi meddхsйget the pбrok oldhatу at gyermekvбllalбsa flask program keretйben the hereszцvetben normбlis sperm termelхdйse , so the spermatozoa obtained from the hereby biopsy can be used by the embryology laboratory for artificial insemination.Gastrointestinal symptoms
The first symptom of cystic fibrosis in children is 24-48 hours post-partum lysis of meconium (fetal prick). Excessive thickening of the stomach can cause bowel obstruction, which may eventually lead to perforation of the bowel wall or twisting of the bowel. Due to the diarrhea of ​​the digestive fluids, further disorders of digestion and absorption occur, usually at 6-8 weeks of age. As a result, children develop slower.Quit the symptoms
The glands of the lining of the lungs and the airways produce a dense, dense mucous membrane that is constantly dense, which removes the lymphatic vessels, and the lymphatic surface of the lungs is significantly reduced. Thoroughbreds cannot survive naturally, so sick young children cry a lot, and dense brethren are also more likely to suffer from a variety of respiratory infections.Izzadsбgmirigyek
In children, the skin looks dense because the sweat glands secrete too much salt (sodium chloride). Because of this, you should pay extra attention to your skin when sweating.gall
Due to the density of the selected bile, the amount of bile injected into the intestine may also be insufficient, due to the light brown, white discoloration of the heart. The bile ducts and the liver can become inflamed.Genital organs, gonads
90-98% of males are incapacitated due to the condition of the ondу duct and the dysfunction of the onductors and sinuses, but today it is treatable. Getting pregnant is harder, but not impossible, for women because of dysfunctional cervix.

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