{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T16:56:02Z","timestamp":1773075362702,"version":"3.50.1"},"reference-count":7,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0623_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Autosomal dominant hypocalcaemia 1 (ADH1) is a rare autosomal dominant genetic disease, due to the activating mutations of the calcium-sensing receptor (<jats:italic>CASR<\/jats:italic>) gene. The current paper presents a severe case of ADH1 with intellectual backwardness, and systematically reviews the reported 17 ADH1 patients in China.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0623_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 7\u00a0years old boy with recurrent seizures over 1\u00a0year was admitted at Yuying children\u2019 hospital, the clinical centre of south province of Zhejiang. Auxiliary examinations demonstrated hypocalcaemia, hyperphosphatemia, hypomagnesemia, hypercalciuria, low parathyroid hormone (PTH), basal ganglia calcifications, normal\u00a0range of serum creatinine, and 25-hydroxyvitamin D.\u00a0Wechsler\u2019s intelligence test result indicated intellectually backward. The patient\u2019s genotype found a heterozygous variant in <jats:italic>CASR<\/jats:italic> gene, c.T416C p. (Ile139Thr). This article also systematically reviews the literatures on ADH1 in China and summarises the clinical characteristics and treatment.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0623_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>ADH1 can be a cause of idiopathic hypoparathyroidism. Recognition and rational treatment is important for symptom improvement and reducing high potential adverse effects.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0623","type":"journal-article","created":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T06:08:33Z","timestamp":1679292513000},"page":"500-504","source":"Crossref","is-referenced-by-count":3,"title":["Activating calcium-sensing receptor gene variants in China: a case report of hypocalcaemia and literature review"],"prefix":"10.1515","volume":"36","author":[{"given":"Shuzhen","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetic Metabolic Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaolin","family":"Li","sequence":"additional","affiliation":[{"name":"Children\u2019s Health Section , Taizhou Women and Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoou","family":"Shan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetic Metabolic Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,3,21]]},"reference":[{"key":"2023050204214802571_j_jpem-2022-0623_ref_001","unstructured":"Wong, WC, Lam, CW, Tong, SF, Tong, CT. Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene. Hong Kong Med J 2011;17:157\u201360."},{"key":"2023050204214802571_j_jpem-2022-0623_ref_002","doi-asserted-by":"crossref","unstructured":"Wang, Y, Nie, M, Wang, O, Li, Y, Jiang, Y, Li, M, et al.. Genetic screening in a\u00a0large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA. J Bone Miner Res 2019;34:2254\u201363. https:\/\/doi.org\/10.1002\/jbmr.3854.","DOI":"10.1002\/jbmr.3854"},{"key":"2023050204214802571_j_jpem-2022-0623_ref_003","unstructured":"Song, FY, Du, M, Dong, Q, Yin, H, Gao, K, Chen, XB. [Clinical and genetic characteristics of primary hypoparathyroidism in children]. Zhonghua Er Ke Za Zhi Chin J Paediatr 2020;58:917\u201322. https:\/\/doi.org\/10.3760\/cma.j.cn112140-20200317-00258."},{"key":"2023050204214802571_j_jpem-2022-0623_ref_004","unstructured":"Sun, H, Chen, LQ, Wang, XM, Wang, J, Xie, RR, Wu, HY, et al.. Autosomal dominant hypocalcemia type 1:one case and literature review. Chin J Endocrinol Metab 2018;34:336\u20139."},{"key":"2023050204214802571_j_jpem-2022-0623_ref_005","doi-asserted-by":"crossref","unstructured":"Ji, Y, Kang, C, Chen, J, Zhang, L. Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: a case report. Medicine 2021;100:e26443. https:\/\/doi.org\/10.1097\/md.0000000000026443.","DOI":"10.1097\/MD.0000000000026443"},{"key":"2023050204214802571_j_jpem-2022-0623_ref_006","unstructured":"Ning, J, Qiao, L. [Analysis of CASR gene variant in a child with idiopathic epilepsy and autism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022;39:309\u201311. https:\/\/doi.org\/10.3760\/cma.j.cn511374-20201209-00862."},{"key":"2023050204214802571_j_jpem-2022-0623_ref_007","doi-asserted-by":"crossref","unstructured":"Lienhardt, A, Bai, M, Lagarde, JP, Rigaud, M, Zhang, Z, Jiang, Y, et al.. Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 2001;86:5313\u201323. https:\/\/doi.org\/10.1210\/jcem.86.11.8016.","DOI":"10.1210\/jcem.86.11.8016"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0623\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0623\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T04:22:06Z","timestamp":1683001326000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0623\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,21]]},"references-count":7,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,3,15]]},"published-print":{"date-parts":[[2023,5,25]]}},"alternative-id":["10.1515\/jpem-2022-0623"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0623","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,21]]}}}