Genetic-epidemiological study of pediatric population of Krasnohrad district of Kharkiv region

Abstract

Aim. Study of genetic pathology burden, both monogenic and chromosomal, of pediatric population of Krasnohrad district of Kharkiv region. Methods. Epidemiological and clinical-genealogical methods have been used. The information on 252 patients aged 0– 17 years from all major sources of their registration has been analyzed. Results. The monogenic pathology burden of pediatric population was 0.28 %, chromosomal disorders burden — 0.13 %, 0.41 % in total. There were 14 nosological forms of single-gene diseases, the most common ones were sensorineural hearing loss (1:1295), congenital glaucoma (1:3884), congenital hypothyroidism (1:3884), ichthyosis (1:3884). For the past ten years there was a change in the spectrum of single-gene pathology in pediatric population of Krasnohrad district. Chromosomal abnormalities in the area were represented by Down syndrome (1:868) and Prader-Willi syndrome (1:7767). Conclusions. The genetic pathology burden of the pediatric population of the Krasnohrad district of Kharkiv region, the spectrum of monogenic and chromosomal pathology, and prevalence of their individual nosological forms are comparable to those in most European countries. Keywords: genetic pathology, prevalence, single-gene diseases, chromosomal disorders, Kharkiv region.