Genetic and clinical aspects of nephrolithiasis and nephrocalcinosis in children with hypercalciuria
S.V. MALTSEV1, T.V. MIKHAILOVA1, O.A. KRAVTSOVA2
1Kazan State Medical Academy, 36 Butlerov St., Kazan, Russian Federation, 420012
2Kazan (Volga region) Federal University, Kremlevskaya St., Kazan, Russian Federation, 420008
Maltsev S.V. — D. Med. Sc., Professor, Head of the Department of Pediatrics with a course in Polyclinic Pediatrics, tel. (843) 236-20-84, e-mail: maltc@mail.ru
Mikhailova T.V. — Cand. Med. Sc., Associate Professor of the Department of Pediatrics with a course of Polyclinic Pediatrics, tel. (843) 236-20-84, e-mail: tatiana.mih@mail.ru
Kravtsova O.A. — PhD (Biology), Associate Professor of the Department of Biochemistry, tel. +7-905-312-99-80, e-mail: okravz@rambler.ru
The article presents the results of examination of 56 children aged 1 to 16 years, 22 of them with nephrocalcinosis, 11 — with nephrolithiasis with hypercalciuria, 23 — with hypercalciuria without concretions and calcinates in the urinary system. The analysis was carried out of the association of single-nucleotide polymorphisms rs4987682 Thr681Met, rs4987667 Val378Met, rs4987657 Cys157Arg of a gene calcium vanilloideae membrane channel TRPV6, rs104893723 Gly198Asp of a gene protein of dense intercellular contacts CLDN16, rs13324142 Val185Met of a gene anion transporter SLC26A6 with the development of hypercalciuria, nephrolithiasis and nephrocalcinosis in children. The risk of nephrolithiasis and nephrocalcinosis in children with hypercalciuria is associated with TRPV6 gene polymorphism. Predisposing factors are homozygous genotype for the T allele (TT) polymorphism rs4987682 C2042T Thr681Met TRPV6 gene and genotype AA polymorphism rs4987667 G1132A Val378Met TRPV6 gene. In the study of bone mineral density in children with hypercalciuria, osteopenia was observed in 45% of cases, which is increasing the risk of fractures.
Key words: hypercalciuria, nephrolithiasis, nephrocalcinosis, analysis of the polymorphism аssociations of TRPV6, CLDN16, and SLC26A6 genes.
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