GENETIC AND ENVIRONMENTAL COMPONENTS IN THE PATHOGENESIS OF DYSMETABOLIC NEPHROPATHY WITH OXALATE-CALCIUM CRYSTALLURIA

Introduction. In recent years, the prevalence of dysmetabolic nephropathies (DN) in children has been increasing, constituting a significant portion of the overall structure of kidney diseases in this age group. Aim. To elucidate the role of genetic and epigenetic components in the pathogenesis of dysmetabolic nephropathy with oxalate-calcium crystalluria in children using the methods of G. Edwards and D. Falconer. Materials and methods. A genealogical history was collected for 108 children aged 6 to 18 years with dysmetabolic nephropathy and 65 healthy children from the Ivano-Frankivsk region. Data were collected on 1076 relatives of affected children of I-II-III degrees of relatedness and 676 relatives of healthy children. Calculation of the contribution of genetic and environmental factors to the occurrence of multifactorial diseases in children was carried out using the model proposed by G. Edwards and G. Smith, and the heritability coefficient for susceptibility to these diseases was calculated using D. Falconer's model. Results and discussion. In the pathogenesis of dysmetabolic nephropathy in children, the genetic component plays a significant role, being 2-3 times greater than in the general population. The heritability coefficient for susceptibility to dysmetabolic nephropathy is very high: for first-degree relatives of affected children – 24%, for second-degree relatives – 20.9%, and for third-degree relatives, it does not differ from the population average – 3.6%. Conclusions. 1. If a family has a child with dysmetabolic nephropathy or a relative with metabolic pathology, the risk of dysmetabolic nephropathy in the second child is higher according to the G. Edward's and G. Smith's models is very high – 36.76% and 48.81%. 2. For relatives of sick children of the first degree of consanguinity, the inheritance rate of predisposition to dysmetabolic nephropathy is very high – 24% and 22%, respectively, in the observation groups and does not depend on the variant of the course of dysmetabolic nephropathy, nor on who is sick – parents or siblings. 3. The risk of having dysmetabolic nephropathy for relatives of the second degree of consanguinity of children with dysmetabolic nephropathy is also quite high – 20.9%. For relatives of the third degree – 3.6%.