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They are described as having 1,600 mutations

The prognosis (life expectancy) of patients with cystic fibrosis has increased in recent years. In the 1960s, the life expectancy of children diagnosed with cystic fibrosis was about 5 years, and has now risen to 32-40 years. The increase in life expectancy can be attributed to a well-developed medical system and the appropriate care of a multidisciplinary team.

Nowadays, most cystic fibrosis patients become outstanding students or even athletes.The first step in the diagnosis of cystic fibrosis is to perform a sweat test that identifies high levels of chlorine in the sweat of patients with the condition.

The diagnosis is then certified by molecular test

The diagnosis is then certified by molecular tests. To date, about 1,600 mutations in the CF gene have been described, but only 16-20 of them are responsible for most cases.Despite the disappointment caused by gene therapy, which did not produce the expected results, significant progress has been made in prolonging the life expectancy and quality of life of patients with cystic fibrosis through the administration of pancreatic replacement enzymes, vitamins, physiotherapy to improve respiratory function (special cough stimulators techniques that lead to better elimination of bronchial secretions).

Antibiotics, and fluidising drugs of the airways.In the US, a drug called Kalydeco was approved in 2012 by the Food and Drug Administration for patients with cystic fibrosis caused by a G551D mutation in the CF gene.

The diagnosis is then certified by molecular testThis mutation occurs in about 4% of cystic fibrosis cases.Prenatal diagnosis of cystic fibrosisDue to the increased incidence of healthy carriers (heterozygotes), screening prior to pregnancy is recommended. They are described as having 1,600 mutations. The most complex screening kit tests 97 mutations, responsible for 98% of cystic fibrosis cases.

If both parents are healthy carriers of a mutation in the CF gene, then prenatal diagnosis (choroid, amniotic fluid) is recommended to confirm whether or not the fetus is affected by the disease.

Newborn screening for cystic fibrosis is mandatory in many countries – the first step is a test for immunoreactive trypsinogen (IRT). If it has a high level, a DNA test is performed to confirm the presence or absence of the mutation. Postpartum diagnosis in patients with early intestinal obstruction. In addition, approximately 80% of men with bilateral congenital lack of sperm (clinically manifested as azoospermia) have mutations in the CF gene.

Once the diagnosis is confirmed, the patient’s condition

Management of cystic fibrosis patientsCystic fibrosis patients require the care of a multidisciplinary team. Once the diagnosis is confirmed, the patient’s condition should be assessed and therapy initiated. In addition, he should receive advice on mastering techniques to maintain proper airway clearance, including training in operating special equipment to help him achieve this.Patients should be monitored at regular intervals of approximately 2-3 months if no complications (especially respiratory problems) occur.

The main targets for the treatment of cystic fibrosis patients are:- maintaining lung function as close as possible to normal by fighting respiratory infections and fluidisation and elimination of viscous mucus (clearance from the airway).

Nutritional therapy (enzyme supplements, multivitamins, mineral supplements) to maintain adequate nutritional status in order to ensure proper growth.- Management of complicationsMedicines used by cystic fibrosis patients:- pancreatic enzyme supplements- fats- soluble vitamins-mucolytics- antibiotics (inhaled, orally, intravenously))- bronchodilators -anti-inflammatory- Kalydeco (ivacaftor) (for people with the G551D mutation only). Research is currently underway on the use of ivacaftor for mutations other than G551D.A Swiss pharmaceutical company has announced that its experimental cystic fibrosis drug called POL6014 could receive orphan drug status from the European Medicines Agency (EMA) Commission for orphan drugs next month.

Once the diagnosis is confirmed, the patient's condition

High levels of elastase damage the structural

This cataloging will allow the company to get financial incentives to further develop the treatment.The EMA approved the designation of POL6014 as an orphan drug. The agency’s decision was motivated by “the needs of cystic fibrosis patients” and by the need for “a new treatment approach with POL6014 to help these patients,” Delara et ef Development Department’s Kristina Sj√∂blom Nygren, quoted from pharmatimes.com.

POL6014 is an innovative, potent and selective human neutrophil elastase (hne) inhibitor, patented by the Swiss pharmaceutical company Polyphor, currently in Phase I – II clinical trial for the treatment of cystic fibrosis.In the first study, Phase I volunteers healthy, ET I Phase I CE ET safety and tolerance in cystic fibrosis patients were complete, “company officials said.According to clinical trials, the drug is well tolerated by patients and did not cause strong inhibition of elastase.

  • High levels of elastase damage the structural, Cellular and soluble components of the lung microenvironment, and thus exacerbate the disease, which affects lung function parameters.Cystic fibrosis or cystic fibrosis is a rare lung disease that affects around 35,000 people in the EU.
  • There are more than 300 cystic fibrosis patients in Romania, but there are also many undiagnosed or misdiagnosed cases, experts say.
  • According to Romanian pulmonologists, cystic fibrosis is the most common autosomal recessive monogenetic disease that affects the Caucasian population due to defects in the CFTR gene that encodes the chlorine channel protein in the epithelial cell membrane.

Life expectancy for cystic fibrosis patients in developed countries can now reach 35-40 years, compared to just 14 years ago half a century ago. M & S is used to treat rare diseases, which leaves traditional donors with reserves for development funding.Cystic fibrosis (cystic fibrosis)is considered one of the most common life-limiting genetic diseases, caused by mutations in a gene responsible for the formation of a protein called the transmembrane regulator of cystic fibrosis (CFTR).

Viscous secretions are formed that block the bronchioles

This protein forms a channel that transports chlorine ions across the membranes of epithelial cells. Mutations in the CFTR gene lead to malfunctioning or lack of the CFTR protein. The result is a disruption of salt and water transport with the elimination of increased amounts of salt in the sweat glands. Viscous secretions are formed that block the bronchioles, pancreatic ducts, bile ducts, and semenoids (structures through which sperm circulates).

Viscous secretions are formed that block the bronchiolesClinical signs of cystic fibrosis include pulmonary symptoms (respiratory tract inflammation, bronchopneumonia, chronic bronchopneumopathy, bronchospasm, cysts, abscesses and pulmonary fibrosis, lung damage resulting in death in most patients), gastrointestinal symptoms (intestinal obstruction 15% of newborns, pancreatic failure), impaired reproductive function.

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