Association of TRPV6, CLDN16, and SLC26A6 gene polymorphisms with the risk of nephrolithiasis and nephrocalcinosis in children with hypercalciuria
Abstract
Clinical and laboratory examinations were made in 56 children aged 1 to 16 years; out of them, 22 children were diagnosed as having nephrocalcinosis, 11 had nephrolithiasis in the presence of hypercalciuria, and 23 were found to have hypercalciuria without concrements and calcifications being formed in the urinary organs. The associations of single-nucleotide polymorphisms rs4987682 Thr681Met, rs4987667 Val378Met, rs4987657 Cysl57Arg of a gene calcium vanilloideae membrane channel TRPV6, rsl04893723 Glyl98Asp of a gene protein of dense intercellular contacts CLDN16, rsl3324142 Vall85Met of a gene union transporter SLC26A6 with the development of hypercalciuria, nephrolithiasis, and nephrocalcinosis were studied in children. TRPV6 gene polymorphism was is associated with the risk of nephrolithiasis and nephrocalcinosis in children with hypercalciuria. The predisposing factors were a homozygous genotype for the T-allele (TT) polymorphism rs4987682 C2042TThr681Met TRPV6 gene and genotype AA polymorphism rs4987667 G1132A Val378Met TRPV6 gene. Examination of bone mineral density in children with hypercalciuria revealed osteopenia in 45% of the cases, which increased the risk of fractures.
About the Authors
S. V. Maltsev
Kazan State Medical Academy, Ministry of Health of Russia
Russian Federation
Russian Federation
T. V. Mikhailova
Kazan State Medical Academy, Ministry of Health of Russia
Russian Federation
Russian Federation
O. A. Kravtsova
Kazan (Volga) Federal University
Russian Federation
Russian Federation
Z. R. Nurieva
Kazan (Volga) Federal University
Russian Federation
Russian Federation
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Review
For citations:
Maltsev S.V., Mikhailova T.V., Kravtsova O.A., Nurieva Z.R. Association of TRPV6, CLDN16, and SLC26A6 gene polymorphisms with the risk of nephrolithiasis and nephrocalcinosis in children with hypercalciuria. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(5):210-215. (In Russ.)
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