Affiliation:
1. Medicinski fakultet, Beograd + Univerzitetska dečja klinika, Beograd
Abstract
Cystic fibrosis (CF) is a multisystemic autosomal recessive disease caused by
a defect in the expression of CFTR protein, i.e. chloride channel present in
the apical membrane of respiratory, digestive, reproductive and sweat glands
epithelium. It primarily occurs in the Caucasians, while being considerably
or exceptionally rare in persons of other races. Absence, deficit or
structural and functional abnormalities of CFTR protein lead to mucosal
hyperconcentration in the respiratory, digestive and reproductive systems and
malabsorption of chloride and sodium in the sweat glands. Thus, the clinical
features of patients? with CF are predominated by respiratory, digestive and
reproductive disorders, as well as the tendency to dehydration in the
condition of increased sweating. Beside genotype variations, the degree of
disease manifestation is also essentially influenced by various exogenous
factors, such as the frequency and severity of respiratory infections, the
level of aero-pollution, quality of immunoprophylaxis, patients? nutritional
condition and other. Chloride concentration of over 60 mmol/L in sweat, a
high level of immunoreactive chymotrypsinogen in blood and the verification
of homozygous mutation of CFTR gene are the basic methods in the diagnostics
of the disease. CF belongs to the group of severe and complex chronic
diseases, and therefore requires multidisciplinary therapeutic approach.
Owing to the improvement of healthcare provision, most patients with CF now
survive into adulthood. In addition, their quality of life is also
considerably improved.
Publisher
National Library of Serbia
Cited by
18 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献