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The severity of the disease depends on the type of mutation

Approximately 95% of the affected men are infertile due to lack or obstruction of the semenopter (CBVAD: congenital bilateral vasoconstriction deferens). The severity of the disease depends on the type of mutation, so far more than 1,600 mutations in the CFTR gene have been described. In the general population, one in 25 people carries a mutation in this gene (heterozygous – a healthy person who can pass the mutation on to offspring).

If both parents have a mutation in this gene, there is a 25% risk that the future child will have cystic fibrosis, a 50% chance of being a healthy carrier of the mutation and a 25% probability of being healthy. If only one parent is a carrier of the mutation, the chances of the child being healthy are 50%, and the healthy carrier of the mutation (without the manifestation of the disease) is 50%.

One in 2,500 newborns has two identical mutations

One in 2,500 newborns has two identical mutations (homozygous mutant) or another (heterozygous compound) and as such are affected by this serious disease, allowing them to survive for only 30-40 years. See also,Given that gene therapy is difficult, it is very important to screen pregnant women and couples at risk of having a child with cystic fibrosis.

To detect mutations, genomic DNA isolated from peripheral blood or amniotic fluid (prenatal diagnosis) is amplified by chain polymerization (PCR). Reaction using fluorescent starters specific to the CFTR gene. The resulting products are analysed using capillary electrophoresis represented by fluorescence peaks.

  • These tests allow the detection of 32 mutations and also allow the distinction between heterozygotes and homozygotes. In addition, 5T-9TG, 5T-10tg, 5T-11tg, 5T-12tg, 5T-13tg, 7T and 9t polymorphisms are also detected.In people with symptoms suggestive of a diagnosis of cystic fibrosis, but whose study did not detect any of the 32 mutations considered to be among the most common in the population, it is necessary to sequence the CFTR gene to examine all possible mutations associated with cystic fibrosis.
  • Cystic fibrosis control The only way we can detect pathological carriers of CFTR genes is through population screening using molecular biology techniques. It takes place in the following circumstances;

One in 2,500 newborns has two identical mutations

In prenatal carewhen is family historywhen hyperechogenic intestine is detected in fetal ultrasoundin infertility studiesIf the family programming test reveals the status of the host in both parents, a pre-implantation or prenatal test will be performed to assess the condition of the embryo.Cystic fibrosis and inseminationEach individual has 2 copies of the CFTR gene.

A child can be born with cystic fibrosis

To have the disease, both children must have mutations, which is to say they are homozygous. If there is a pathological mutation in only one of the two children, a situation called heterozygote, the disease does not manifest clinically. A child can be born with cystic fibrosis if both parents are carriers of a pathological gene, and this happens in 25% of cases.Cystic fibrosis mutationsThe involved gene was discovered in 1989 and encodes a protein involved in transmembrane transport – the regulator of cystic fibrosis transboundary conduction (CFTR).

To date, more than 1,600 mutations have been isolated in the genetic material of patients with cystic fibrosis, with large geographic and population diversity.The most common mutation found in Greece, which covers 53.4% of cases, is ΔF508 and is responsible for the most severe form of cystic fibrosis of all the mutations encountered.

A child can be born with cystic fibrosis

Other more common mutations, which cover 17.7% of cases, include:621 + 1G> T (5,7%)G542X (3.9%)N1303K (2,6%)2789 + 5G> A (1,7%)2183AA> G (1,4%)E822X (1,4%)R1158X (1%)

Other mutations have a frequency of less than 1%.Hereditary disease characterized by abnormal viscosity of mucus secreted by intestinal, pancreatic and bronchial glands.

The prevalence and cause of Cystic Fibrosis mainly affects Caucasians, with between 2,000 and 2,500 children. It is a disease with autosomal transmission (the carrier gene is located on asexual chromosomes) recessive (the gene must be taken from both mother and father for the disease to develop)Signs and symptoms – as mucous secretions are too sticky , leaks poorly in natural pipes, cystic dilations and even blockages occur.

But the ones that get the child’s attention first are generally

Manifestations can begin immediately after birth with a neonatal bowel obstruction, delayed evacuation of tar, jaundice (caused by biliary obstruction), or small bronchial obstruction that can lead to respiratory collapse. But the ones that get the child’s attention first are generally. respiratory problems, persistent cough, repeated bronchitis, emphysema, which leads to early respiratory failure. A few years later, a permanent mucous-pus charge appears, followed by a widening of the chest, digital hypocriticism (nails wide and curved like claws), and cyanosis of the limbs.

Exacerbation of respiratory symptoms is associated with pulmonary superinfection of various microbes such as Staphylococcus aureus and Pyocyanic Bacillus.The airway is accompanied by digestive symptoms; 85% of cystic fibrosis sufferers have pancreatic failure, which generally translates to chronic diarrhea, with the secretion of voluminous, oily and foul-smelling stools. This persistent diarrhea explains the weight loss seen in children whose appetite has not decreased beyond periods of respiratory infection.

If pancreatic fibrosis spreads to the Langerhans ‘ islets (small clusters of cells responsible for insulin secretion by the pancreas), this can lead to insulin-dependent diabetes mellitus. Liver damage is less common and sometimes leads to cirrhosis, gallstones (gallstones) or cardiomyopathy. Infertility in boys and overpopulation in girls are common.Diagnosis and evolution-these different symptoms indicate the likelihood of the disease occurring. A sweat Test will be used to confirm the diagnosis, which reveals abnormally high levels of chlorine and sodium in the sweat.

The disease leads to severe and often fatal respiratory failure

Dosing should be performed by a highly experienced laboratory and two tests are required before a definitive diagnosis is made. The disease leads to severe and often fatal respiratory failure.Treatment-in the current state of knowledge, treatment can only work for symptoms. The close cooperation of the hospital team, the Attending Physician, the physiotherapists and the home nurse allows the child to stay with the family for as long as possible and to best support forced care.

The disease leads to severe and often fatal respiratory failure

Efforts will then be made to bring the patient to school and professionally.The first goal of treatment is to maintain a satisfactory nutritional state. The administration of extracts from the pancreas, a hypercaloric and hypolipid diet, and even a diet by gastric tube or infusion contribute to the deficiency. At high temperature, absorption of chlorine tablets prevents dehydration.

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