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About CF – c-f.at

About CF

Cystic fibrosis (CF) is the most common genetic genetic disease. The salt metabolism of the body’s own cells is disturbed by a genetic mutation. The resulting viscous body secretions severely affect the lungs, liver, digestive tract and lead to up to 100% pancreatic insufficiency. Without medical aid, people with CF would suffocate or starve. CF is a complex disease that leads to chronic lung infections, chronic malnutrition, chronic sinusitis, chronic shortness of breath, depression, and generally a chronic struggle for survival. CF is known as a childhood disease, because until recently, children rarely reached adulthood. Statistically, children born with CF have a 40% chance of becoming 40 years old.

On the long arm of chromosome 7, at the gene locus q31.2, is the CFTR gene, which, when intact, encodes the gene product that acts as a chloride channel in the cell. This gene on the long arm of the 7th chromosome, at the q31.2 locus, is mutated in people with CF. If both copies of this one gene are defective, this leads to loss of function of the chlorin channel and a dramatic disturbance of the metabolism of all marginal body cells and ultimately to the fatal multiorgan disease – Cystic Fibrosis.

CYSTIC FIBROSIS Iis the most prevalent life-threatening hereditary disease in Caucasian light-skinned people. CF is still an incurable disease. But early diagnosis, regular follow-up visits to a specialized CF clinic, strict hygiene and proper and timely treatment of symptoms can prolong life and improve quality of life. CF is a hereditary disease. It is therefore not contagious. In Europe, 1 human from 20 carries this genetic defect. If two partners are carriers of this genetic defect, there is a 25% chance of giving birth to a CF-ill child. Although this disease exists from birth, it may not be discovered until later in life.

INDICATIONS OF CYSTIC FIBROSIS Cystic fibrosis mainly affects the respiratory tract, pancreas and liver. Increased viscosity of the secretions in the lungs and pancreas, in the sweat and male spermatic ducts can cause recurrent pneumonia, the absence of digestive enzymes, excessive salt loss in sweat, and male infertility.

TREATMENT OF THE SYMPTOMS OF CF CF requires intense and time-consuming treatment by inhalation, physiotherapy, administration of pancreatic enzymes, antibiotics, other medicines, and especially regular clinical follow-up. This treatment can not cure the disease, it can only help prevent the symptoms, delay or alleviate them. CF patients take in 30 tablets daily and invest 4 hours daily for therapy. Thus, the life expectancy for CF children could be increased to at least 40 years.

EVERYDAY LIFE OF A CHILD WITH CF

The everyday life of a CF child is hard to understand for healthy people. In addition to the daily, hours-long therapies, continuous caution is the constant companion of CF families! Viruses and bacteria, which are usually harmless, pose a life-threatening threat to the susceptible lung of CF patients. Rare bacteria such as Pseudomonas aeruginosa, Burkholderia cepacia, and other resistant mycobacteria can form colonies in the CF lung and become untreatable even with the most effective antibiotic agents. This leads to a permanent and fatal decrease in lung function. Therefore, CF children must strictly avoid contact with everyday life: fountains, toilet bowls, swimming pools, whirlpools, wet foods, ice cream, earth, plants, etc.

THE FUTURE

While CF children and their families still have to wait and hope for a definitive cure, research is working intensively on correcting the genetic defect and, with the support of the GREAT STRIDES, constantly making progress. The identification of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) in 1989 has definitely paved the way for new and effective therapies. It is time to complete this path!