{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T10:47:04Z","timestamp":1766400424559,"version":"3.38.0"},"reference-count":6,"publisher":"Scientific Scholar","content-domain":{"domain":["indianjnephrol.org"],"crossmark-restriction":true},"short-container-title":["Indian J Nephrol"],"abstract":"<jats:p>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&gt;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.<\/jats:p>","DOI":"10.25259\/ijn_531_23","type":"journal-article","created":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T06:47:37Z","timestamp":1718002057000},"page":"294-296","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Bones, Stones, and Hematuria - Connecting the Dots"],"prefix":"10.25259","volume":"35","author":[{"given":"Madhura P.","family":"Fadnis","sequence":"first","affiliation":[{"name":"Pediatrics, Bharati Hospital and Research Centre, Pune, Maharashtra, India"},{"name":"Pediatric Nephrologist, Bharati Hospital and Research Centre, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijay","family":"Kalrao","sequence":"additional","affiliation":[{"name":"Pediatrics, Bharati Hospital and Research Centre, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suprita","family":"Kalra","sequence":"additional","affiliation":[{"name":"Pediatrics, Command Hospital, Pune, Maharashtra, India"},{"name":"Pediatric Nephrologist, Command Hospital, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suchi","family":"Acharya","sequence":"additional","affiliation":[{"name":"Pediatric Nephrologist, Command Hospital, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2024,6,10]]},"reference":[{"key":"10.25259\/ijn_531_23\/ref-1","doi-asserted-by":"publisher","first-page":"57","DOI":"10.4103\/ijn.IJN_323_17","article-title":"Familial hypomagnesemia, hypercalciuria and nephrocalcinosis with novel mutation","volume":"29","author":"Margabandhu","year":"2019","journal-title":"Indian J Nephrol"},{"key":"10.25259\/ijn_531_23\/ref-2","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s13312-020-2021-5","article-title":"Pediatrician-friendly IAP growth charts for children aged 0-18 years","volume":"57","author":"Parekh","year":"2020","journal-title":"Indian Pediatr"},{"key":"10.25259\/ijn_531_23\/ref-3","doi-asserted-by":"publisher","first-page":"1923","DOI":"10.1007\/s00467-012-2329-z","article-title":"Hereditary causes of kidney stones and chronic kidney disease","volume":"28","author":"Edvardsson","year":"2013","journal-title":"Pediatr Nephrol"},{"key":"10.25259\/ijn_531_23\/ref-4","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1093\/ckj\/sfv081","article-title":"Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: Clinical and molecular characteristics","volume":"8","author":"Claverie-Martin","year":"2015","journal-title":"Clin Kidney J"},{"key":"10.25259\/ijn_531_23\/ref-5","doi-asserted-by":"crossref","first-page":"s35","DOI":"10.1016\/j.ekir.2022.01.094","article-title":"POS-084 a rare genetic disorder presenting as recurrent urinary tract infection in children","volume":"7","author":"Agarwal","year":"2022","journal-title":"Kidney Int Rep"},{"key":"10.25259\/ijn_531_23\/ref-6","doi-asserted-by":"crossref","first-page":"31","DOI":"10.4103\/AJPN.AJPN_11_20","article-title":"Novel pathogenic variant causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis","volume":"3","author":"Mathew","year":"2020","journal-title":"Asian J Pediatr Nephrol"}],"container-title":["Indian Journal of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/indianjnephrol.org\/bones-stones-and-hematuria-connecting-the-dots\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/indianjnephrol.org\/bones-stones-and-hematuria-connecting-the-dots\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T10:34:19Z","timestamp":1740566059000},"score":1,"resource":{"primary":{"URL":"https:\/\/indianjnephrol.org\/bones-stones-and-hematuria-connecting-the-dots\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,10]]},"references-count":6,"alternative-id":["10.25259\/ijn_531_23"],"URL":"https:\/\/doi.org\/10.25259\/ijn_531_23","relation":{},"ISSN":["1998-3662","0971-4065"],"issn-type":[{"type":"electronic","value":"1998-3662"},{"type":"print","value":"0971-4065"}],"subject":[],"published":{"date-parts":[[2024,6,10]]},"article-number":"294"}}