NPHS1 and NPHS2 genes in children with nephrotic syndrome

Abstract

Analyzed the current status of chronic glomerulonephritis (CGN) in children, listed the known aspects of pathogenesis and what remains to be studied. In particular, data on the burden of disease (incidence, prevalence, rate of progression) are missing or limited; available information on the relationship of known risk factors regarding morbidity, prevalence and progression are limited; insufficient data on the importance of maternal health factors and fetal risk factors. Genetic causes of CGN vary in different places and knowledge remains limited. CGN is characterized by genetically determined immuno-mediated inflammation of the renal glomeruli, accompanied by the integration of all the structures of the kidneys into the pathological process. The data on the association of NPHS1 and NPHS2 polymorphisms that play an important role in the molecular mechanisms of nephrotic syndrome in various populations are presented. It is noted that in the European population the most frequent polymorphism associated with steroid-resistant nephrotic syndrome (NS) is R138Q (rs74315342). NPHS1 and NPHS2 are common among Iranian children with steroid-resistant NS, and p.R229Q mutations are not registered. In contrast to Iranian adolescents, in the Russian population in children with this pathology, a frequent association of the polymorphic marker R229Q in the heterozygous state was revealed. A low mutation rate in NPHS1 and NPHS2 was found in Pakistani children with NS, whereas in children with NA, from the Iranian population, NPHS1 rs437168, but not NPHS2 rs61747728, was associated with NA. Several studies have shown that mutations in the NPHS2 gene occur in 20 % to 30 % of sporadic cases of steroid-resistant NS. Attention is drawn to the lack of knowledge of the polymorphism of these genes in Azerbaijani children with CGN.