Cystic fibrosis in the Primorsky territory: achievements and challenges

Abstract

A systematic analysis of certain aspects of the problem of cystic fibrosis (CF) is necessary to improve the quality of care requires. Methods. The study involved 52 patients with CF: children - 66.5 %, adults - 33.5 %. We studied the structure of the gene mutations transmembrane conductance regulator (CFTR). The level of neonatal blood immunoreactive trypsin was defined in 72,746 newborns. It was examined the spectrum of bacterial pathogens, the state of the nutritional status of patients, the level of fecal elastase-1. Results. The frequency of CF in the Primorsky territory - 2.69 per 100 thousand population. The frequency of birth of patients - 1 per 6,613 newborns. The average patient age 13.5±8.4. Among adult patients, 77.8 % of men. Among the dead children, girls accounted for 66.7 %. During the 17-year of follow-up verification of the terms of diagnosis decreased by 5.3 times. The structure of the allelic frequency prevails «severe» mutations in CFTR, often - F508del (53.7 %). In the structure of the microbial pathogen Pseudomonas aeruginosa and Staphylococcus aureus were verified more frequently. В 1,6 раза увеличилась частота выделения Burkholderia cepacia complex. Meconium ileus, rectal prolapse, weight deficiency, the severity of the disease and low levels of fecal elastase-1 are the objective criteria of exocrine pancreatic insufficiency degree. Only 61.4 % of the patients systematically implemented the recommendations for treatment and rehabilitation. Conclusions. In Primorsky territory, there are opportunities for the timely diagnosis of CF, to determine risk factors that predict it in different age groups, carrying out and monitoring the efficiency of basic therapy. There remain problems with the practical awareness of doctors and patients about the risk groups, diagnostic capabilities and modern therapy.