{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:53:19Z","timestamp":1753883599383,"version":"3.41.2"},"reference-count":9,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2022,12,2]],"date-time":"2022-12-02T00:00:00Z","timestamp":1669939200000},"content-version":"vor","delay-in-days":3,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Rickets is a disorder of impaired bone mineralization that can arise from nutritional deficiencies and inherited conditions. We describe a 10-year-old girl presenting with genu valgum and a history of renal stones due to hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a rare inherited form of rickets characterized by high 1,25 vitamin D levels, hypophosphatemia with inappropriate renal phosphate wasting, and hypercalciuria. After the diagnosis was confirmed, she began treatment with phosphorus supplementation and stopped taking vitamin D, leading to improved bone mineral density and reduction in renal symptoms. Patients with HHRH can be distinguished from those with other forms of hypophosphatemic rickets by their high 1,25 vitamin D levels in conjunction with low to normal parathyroid hormone and fibroblast growth factor 23 (FGF23) levels. Genetic testing for SLC34A3 variants provides a definitive diagnosis.<\/jats:p>","DOI":"10.1210\/jcemcr\/luac022","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T16:21:52Z","timestamp":1669911712000},"source":"Crossref","is-referenced-by-count":0,"title":["Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4749-0943","authenticated-orcid":false,"given":"Stephanie","family":"Christensen","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Endocrinology, University of California Davis Medical Center , Sacramento, CA 95817 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8985-4149","authenticated-orcid":false,"given":"Lindsey A","family":"Loomba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Endocrinology, University of California Davis Medical Center , Sacramento, CA 95817 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2022,12,2]]},"reference":[{"issue":"4","key":"2023100215452232200_luac022-B1","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.beem.2018.05.009","article-title":"Hypocalcaemic and hypophosphatemic rickets","volume":"32","author":"Lambert","year":"2018","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"2023100215452232200_luac022-B2","doi-asserted-by":"crossref","first-page":"688309","DOI":"10.3389\/fendo.2021.688309","article-title":"X-linked hypophosphatemic rickets: multisystem disorder in children requiring multidisciplinary management","volume":"12","author":"Baroncelli","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2023100215452232200_luac022-B3","doi-asserted-by":"crossref","first-page":"17101","DOI":"10.1038\/nrdp.2017.101","article-title":"Rickets","volume":"3","author":"Carpenter","year":"2017","journal-title":"Nat Rev Dis Primers"},{"issue":"9-10","key":"2023100215452232200_luac022-B4","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1159\/000520299","article-title":"Variable clinical presentation of hereditary hypophosphatemic rickets with hypercalciuria: A case series and review of the literature","volume":"94","author":"Christensen","year":"2021","journal-title":"Horm Res Paediatr"},{"issue":"2","key":"2023100215452232200_luac022-B5","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1086\/499410","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3","volume":"78","author":"Lorenz-Depiereux","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"6","key":"2023100215452232200_luac022-B6","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00240-019-01116-2","article-title":"Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting","volume":"47","author":"Schonauer","year":"2019","journal-title":"Urolithiasis"},{"issue":"2","key":"2023100215452232200_luac022-B7","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1086\/499409","article-title":"SLC34A3 Mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis","volume":"78","author":"Bergwitz","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"10","key":"2023100215452232200_luac022-B8","doi-asserted-by":"crossref","first-page":"4022","DOI":"10.1210\/jc.2005-2840","article-title":"Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria","volume":"91","author":"Ichikawa","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2023100215452232200_luac022-B9","first-page":"343","article-title":"SLC34A3 Intronic deletion in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria","volume":"10","author":"Hasani-Ranjbar","year":"2018","journal-title":"J Clin Res Pediatr Endocrinol"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/advance-article-pdf\/doi\/10.1210\/jcemcr\/luac022\/47513633\/luac022.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/1\/luac022\/51825094\/luac022.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/1\/luac022\/51825094\/luac022.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T15:45:36Z","timestamp":1696261536000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luac022\/6862618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,29]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,11,29]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luac022","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2023,1,1]]},"published":{"date-parts":[[2022,11,29]]},"article-number":"luac022"}}