About the disease

    Mucoviscidosis (English - cystic fibrosis, CF) is the most common people’s genetic disease. The cause of the disease is mutation of CFTR gene (cystic fibrosis transmembrane conductance regulator). The gene of the disease is located (and genetically transferred) on the long arm of chromosome VII. There are many mutations of the gene. In 1995 CFGAC Institute registered 600 varieties (mutations). The most frequent one, delta F 508 probably determines a heavy course of the disease. As a result, the body produces too sticky mucus which leads to disorders in all organs with mucous glands (among others lungs, alimentary canal). Mucoviscidosis is a disease of the whole organism whose symptoms first of all are chronic lung and bronchial disease and also enzymatic failure of pancreas functions with further digestion and absorption disorders. Sweat glands give out sweat with the increased concentration of chlorine and sodium (so called salty sweat). According to the recent studies, one out of 21 people carries the damaged gene causing cystic fibrosis.

    At present mucoviscidosis is still an incurable disease leading to premature death.

    However, what is crucial for the quality and life span of the sick is the early diagnosis and also starting proper and ordered treatment early enough.

    Treatment

    Treating lung and bronchial disease in the course of mucoviscidosis needs:

    removing thick and sticky secretion from the respiratory tract, controlling the acute chronic inflammatory condition of the bronchi and lungs by means of antibiotics

    Clearing the bronchial tubes off the secretion needs applying medicines that make it fluid and physiotherapy of the respiratory system. Effective physiotherapy not only improves patency of the bronchi but also limits the escalation of the chronic inflammatory conditions by permanent elimination of bacteria and inflammatory substances. At the same time it slows down the development of irreversible damage of the bronchi and lungs. Treatment with antibiotics aims at bringing under control bacterial infections of the bronchi and lungs. Applying full treatment in combination with physiotherapy is supposed to slow down irreversible changes in the bronchi and lungs.

    Treatment of the symptoms in the alimentary tract

    The basic rule is to correct the scarcity of the pancreatic enzymes and provide high energy diet covering 120-150 % daily caloric requirement of a healthy peer. Moreover, the given dose of vitamins, especially A, D, E, K should be increased. Unfortunately, at present there is no effective method of treating mucoviscidosis. The procedures and medicines mentioned above allow only to extend life and hope that soon an effective medicine will be found. The cost of treatment a single child is 1000–3000 zlotys monthly not counting parents’ time (one of them had to give up work) and also the costs paid by national health service. More information on SERWIS mukowiscydoza – Cystic Fibrosis.

    Marlena i BartÅ‚omiej Mielniccy ul. Wyki 43/2 75-950 Koszalin mobile 600 275 758