{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T17:50:12Z","timestamp":1791481812862,"version":"4.3.4"},"reference-count":38,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2026-0185_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Hereditary hypomagnesemia with secondary hypocalcemia (HSH), also referred to intestinal hypomagnesemia 1 (HOMG1), is an extremely rare autosomal recessive genetic disorder with an unclear incidence rate. To summarize the clinical phenotypes and genetic characteristics of Chinese patients with HSH caused by\n                      <jats:italic>TRPM6<\/jats:italic>\n                      gene mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0185_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      Three Chinese children in our center presented with afebrile convulsions, one of them developed gross hematuria. These three patients carried a total number of four novel\n                      <jats:italic>TRPM6<\/jats:italic>\n                      mutations: c.4599C&gt;G, c.274A&gt;G, c.517T&gt;A, and c.5135-1G&gt;A. Among the 30 Chinese HSH patients, 21 were male and 9 were female. The median age of onset was 5.50 (2.00, 10.25) months. The average serum magnesium level increased from 0.24\u00a0\u00b1\u00a00.13\u202fmmol\/L before treatment to 0.57\u00a0\u00b1\u00a00.10\u202fmmol\/L after treatment. The main clinical symptom was convulsions (90.0\u202f%), predominantly afebrile convulsions. Developmental delay was observed in 23.3\u202f% of patients, and 36.7\u202f% had normal electroencephalogram and brain MRI findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0185_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>HSH primarily presents with convulsions in infancy. For patients of different ages with unexplained recurrent convulsions or tetany, if the fractional excretion of magnesium (FEMg) is\u00a0\u22642\u202f%, HSH should be considered as a primary diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0185","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T05:55:39Z","timestamp":1782107739000},"page":"917-925","source":"Crossref","is-referenced-by-count":0,"title":["Three cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel\n                    <i>TRPM6<\/i>\n                    gene mutations and a literature review"],"prefix":"10.1515","volume":"39","author":[{"given":"Mengjie","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetic Metabolic Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhichao","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetic Metabolic Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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 , Zhejiang , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetic Metabolic Endocrinology , The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University , Wenzhou , Zhejiang , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,6,23]]},"reference":[{"key":"2026100816572548615_j_jpem-2026-0185_ref_001","doi-asserted-by":"crossref","unstructured":"Van Laecke, S. 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