Basic clinicolaboratory and genetic characteristic of patients with mucoviscidosis living in Perm krai, other regions of Privolzhsky federal district and Central federal district of Russia
Aim. The project National Register of Patients with Mucoviscidosis (MV), introduced in Russia, opened the widest perspectives for comparative analysis and summarizing of clinico-epidemiological data all over Russia, federal districts, regions and separate territories. The register data permit to generalize the experience of observation and management of MV patients in centers. Comparative analysis of the clinico-epidemiological characteristics of MV and volume of therapy in patients living in Perm Krai (PK) with the other regions of Privolzhsky Federal District (PFD) and Central Federal District (CFD) of Russia was carried out. Materials and methods. According to the Register of MV Patients in the Russian Federation for 2017, the data of 1576 patients with MV were analyzed: 930 (59.0 %) patients were observed in CFD, 600 (38.1 %) in PFD, 46 (2.9) in PK. Results. Among MV patients in PFD and PK, there was noted a great variety of variants of the gene CFTR, associated with both the presence of autochthonic and relatively closed ethnic groups and migration of the population. A high allele frequency of the variant E92K was revealed in patients of Chuvash Republic (55.3 %). A group of patients from PK, registered in 2017, had a low mean age, the lowest age of making a diagnosis. Conclusions. Clinico-epidemiological studies, according to the data of MV patients register, permitted to detect some peculiar features that can be significant for practical healthcare. Further studies on MV patients register should be continued.