perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”perinatology-183Research ArticleМАТЕРИАЛЫ XII РОССИЙСКОЙ КОНФЕРЕНЦИИ «ПЕДИАТРИЯ И ДЕТСКАЯ ХИРУРГИЯ В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ»МАТЕРИАЛЫ XII РОССИЙСКОЙ КОНФЕРЕНЦИИ «ПЕДИАТРИЯ И ДЕТСКАЯ ХИРУРГИЯ В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ»Ассоциация полиморфизмов генов TRPV6, CLDN16, SLC26A6c риском развития нефролитиаза, нефрокальциноза при гиперкальциурии у детейAssociation of TRPV6, CLDN16, and SLC26A6 gene polymorphisms with the risk of nephrolithiasis and nephrocalcinosis in children with hypercalciuriaМальцевС. В.MaltsevS. V.

д.м.н., проф., чл.-корр. Академии наук Республики Татарстан420111 Казань, ул. Баумана, д. 20

МихайловаТ. В.MikhailovaT. V.

к.м.н., доц. каф. педиатрии с курсом поликлинической педиатрии Казанской государственной медицинской академии

КравцоваО. А.KravtsovaO. A.

к.м.н., доц. каф. биохимии Казанского (Приволжского) федерального университета

НуриеваЗ. Р.NurievaZ. R.

н.с. той же каф. 420008 Казань, ул. Кремлевская, д. 18

ГБОУ ДПО «Казанская государственная медицинская академия» Минздрава РоссииРоссияKazan State Medical Academy, Ministry of Health of RussiaRussian FederationФГАОУ ВПО «Казанский (Приволжский) федеральный университет»РоссияKazan (Volga) Federal UniversityRussian Federation201514032016605210215Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/183

Проведено клинико-лабораторное обследование 56 детей в возрасте от 1 года до 16 лет, у 22 из них диагностирован неф-рокалыцшоз, у 11 - нефролитиаз на фоне гиперкальциурии, у 23 наблюдалась гиперкалыцгурия без образования конкрементов и кальцинатов в органах мочевой системы. Исследованы ассоциации однонуклеотидных полиморфизмов rs4987682 Thr681Met, rs4987667 Val378Met, rs4987657 Cysl57Arg гена кальциевого ванилоидного мембранного канала TRPV6, rsl04893723 Glyl98Asp гена белка плотных межклеточных контактов CLDN16, rsl3324142 Vall85Met гена анионного транспортера SLC26A6 с развитием гиперкальциурии, нефролитиаза и нефрокальциноза у детей. С риском развития нефролитиаза и нефрокальциноза у детей с гиперкальциурией ассоциирован полиморфизм гена TRPV6. Предрасполагающими являлись гомозиготный генотип по Т-аллелю (ТТ) полиморфизма rs4987682 C2042T Thr681Met гена TRPV6 и генотип АА полиморфизма rs4987667 G1132A Val378Met гена TRPV6. При исследовании минеральной плотности кости у детей с гиперкальциурией остеопения наблюдалась в 45% случаях, что повышало риск развития переломов.

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.

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The authors declare that there are no conflicts of interest present.