{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:22Z","timestamp":1774645762460,"version":"3.50.1"},"reference-count":83,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0147_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Infantile hypercalcemia-1 (HCINF1) is a rare disease caused by pathogenic variants in the <jats:italic>CYP24A1<\/jats:italic> gene, resulting in the inability to metabolize active vitamin D. This leads to hypercalcemia and severe complications.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0147_abs_002\">\n                  <jats:title>Content<\/jats:title>\n                  <jats:p>On December 8th, 2022, a systematic literature search was conducted in PubMed, Wanfang, and CNKI using\u00a0the keywords \u201chypercalcemia\u201d and \u201c<jats:italic>CYP24A1<\/jats:italic>\u201d. Data extraction included patient demographics, clinical presentation, treatment medications, and outcomes. The findings were synthesized to identify common patterns and variations among cases and to assess the efficacy of different therapies in reducing serum calcium. Our findings revealed two distinct peaks in the incidence of HCINF1 caused by <jats:italic>CYP24A1<\/jats:italic> pathogenic variant. Kidney stones or renal calcifications were the most common clinical manifestations of the disease, followed by polyuria and developmental delay. Laboratory investigations showed hypercalcemia, elevated vitamin D levels, hypercalciuria, and low parathyroid hormone. Genetic analysis remains the only reliable diagnostic tool. Although there is no definitive cure for HCINF1, multiple drugs, including bisphosphonates, calcitonin, and rifampicin, have been used to control its symptoms. Blocking the production and intake of vitamin D is the preferred treatment option.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0147_abs_004\">\n                  <jats:title>Summary and outlook<\/jats:title>\n                  <jats:p>Our review highlights the basic clinical and biochemical features of HCINF1 and suggests that targeted diagnostic and therapeutic strategies are needed to address the clinical heterogeneity of the disease. The insights gained from this study may facilitate the development of innovative treatments for HCINF1.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0147","type":"journal-article","created":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T17:33:27Z","timestamp":1695922407000},"page":"999-1011","source":"Crossref","is-referenced-by-count":6,"title":["Clinical heterogeneity and therapeutic options for\u00a0idiopathic infantile hypercalcemia caused by\u00a0<i>CYP24A1<\/i> pathogenic variant"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4006-8037","authenticated-orcid":false,"given":"Zhichao","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yujie","family":"Wu","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiping","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiahui","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunshun","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoou","family":"Shan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,9,29]]},"reference":[{"key":"2023111313421761767_j_jpem-2023-0147_ref_001","doi-asserted-by":"crossref","unstructured":"Hmami, F, Oulmaati, A, Amarti, A, Kottler, ML, Bouharrou, A. Overdose or hypersensitivity to vitamin D? Arch Pediatr 2014;21:1115\u20139. https:\/\/doi.org\/10.1016\/j.arcped.2014.06.025.","DOI":"10.1016\/j.arcped.2014.06.025"},{"key":"2023111313421761767_j_jpem-2023-0147_ref_002","doi-asserted-by":"crossref","unstructured":"Brancatella, A, Cappellani, D, Kaufmann, M, Semeraro, A, Borsari, S, Sardella, C, et al.. Long-term efficacy and safety of Rifampin in the treatment of a patient carrying a CYP24A1 loss-of-function variant. 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