Madhura P. Fadnis, Vijay Kalrao, Suprita Kalra, Suchi Acharya
{"title":"骨骼、结石和血尿.... 连接点","authors":"Madhura P. Fadnis, Vijay Kalrao, Suprita Kalra, Suchi Acharya","doi":"10.25259/ijn_531_23","DOIUrl":null,"url":null,"abstract":"We report a 12 yr old boy who presented with recurrent gross hematuria, polyuria and rickets with growth failure. Investigations showed bilateral renal calculi with small kidneys on ultrasonography along with hypercalciuria; hypomagnesemia and reduced kidney function. His younger sibling also had nephrocalcinosis hypomagnesemia. The genetic analysis done in view of recurrent renal calculi with chronic kidney disease showed a homozygous missense variant (c.392G>A) at exon 4 of CLDN 16 gene suggestive of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The younger sibling had a similar homozygous mutation and the parents were heterozygous carriers.","PeriodicalId":0,"journal":{"name":"","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Bones, Stones, and Hematuria….Connecting the Dots\",\"authors\":\"Madhura P. Fadnis, Vijay Kalrao, Suprita Kalra, Suchi Acharya\",\"doi\":\"10.25259/ijn_531_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We report a 12 yr old boy who presented with recurrent gross hematuria, polyuria and rickets with growth failure. Investigations showed bilateral renal calculi with small kidneys on ultrasonography along with hypercalciuria; hypomagnesemia and reduced kidney function. His younger sibling also had nephrocalcinosis hypomagnesemia. The genetic analysis done in view of recurrent renal calculi with chronic kidney disease showed a homozygous missense variant (c.392G>A) at exon 4 of CLDN 16 gene suggestive of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The younger sibling had a similar homozygous mutation and the parents were heterozygous carriers.\",\"PeriodicalId\":0,\"journal\":{\"name\":\"\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0,\"publicationDate\":\"2024-06-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25259/ijn_531_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/ijn_531_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
We report a 12 yr old boy who presented with recurrent gross hematuria, polyuria and rickets with growth failure. Investigations showed bilateral renal calculi with small kidneys on ultrasonography along with hypercalciuria; hypomagnesemia and reduced kidney function. His younger sibling also had nephrocalcinosis hypomagnesemia. The genetic analysis done in view of recurrent renal calculi with chronic kidney disease showed a homozygous missense variant (c.392G>A) at exon 4 of CLDN 16 gene suggestive of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The younger sibling had a similar homozygous mutation and the parents were heterozygous carriers.
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