{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:24:34Z","timestamp":1778631874880,"version":"3.51.4"},"reference-count":27,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0213_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Summarize the clinical phenotypes and genotypic characteristics of Chinese pediatric patients with maturity-onset diabetes of the young due to\n                      <jats:italic>HNF1\u03b2<\/jats:italic>\n                      \u00a0variants (\n                      <jats:italic>HNF1\u03b2<\/jats:italic>\n                      -MODY).\u00a0\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0213_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Retrospective analysis of clinical characteristics, blood biochemical indexes, and genetic testing data was conducted on six children diagnosed with\n                      <jats:italic>HNF1\u03b2<\/jats:italic>\n                      -MODY followed in a single institution in Wenzhou from July 2020 to July\u00a02024.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0213_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among the six children, three males and three females with a median age of diabetes onset at 12.3, four presented with pancreatic dysplasia. Extra-pancreatic manifestations included renal structural abnormalities(6\/6), hypomagnesemia(6\/6), hyperuricemia(4\/6), elevated liver enzymes(4\/6), hyperlipidemia(3\/6), and genital tract malformation(1\/6). Genetic testing identified a heterozygous\n                      <jats:italic>HNF1\u03b2<\/jats:italic>\n                      exon: 1\u20139 deletion in one patient, while the other five 17q12 microdeletions. Four children started insulin therapy at diagnosis, demonstrating no progressive decline in insulin secretion function and well-maintained insulin dependency. Six children received oral magnesium supplementation, and blood magnesium levels persisted at\u00a0the lower limit of normal, without neuromuscular complications. Combined therapy with urinary alkalinizing agents and uricosuric drugs in three patients effectively maintained the serum urate levels, without observed progression. Hepatoprotective therapy decreased liver enzymes in two\u00a0cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0213_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The clinical phenotype of\n                      <jats:italic>HNF1\u03b2<\/jats:italic>\n                      -MODY encompasses early-onset diabetes mellitus, pancreatic dysplasia, kidney disease, liver dysfunction, and genitourinary tract malformations, with refractory hypomagnesemia and hyperuricemia representing pathognomonic features. Early genetic confirmation can facilitate timely insulin initiation, guide targeted correction of electrolyte imbalances and metabolic disorders, and trigger proactive multi-organ monitoring for disease evolution.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0213","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T11:55:47Z","timestamp":1760615747000},"page":"1270-1277","source":"Crossref","is-referenced-by-count":1,"title":["Maturity-onset diabetes of the young due to\n                    <i>HNF1\u03b2<\/i>\n                    variants (\n                    <i>HNF1\u03b2<\/i>\n                    -MODY): a 2-year follow-up study of six patients from a single diabetes center"],"prefix":"10.1515","volume":"38","author":[{"given":"Handan","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Heredity and Metabolism , The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University , Wenzhou , Zhejiang , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Heredity and Metabolism , The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University , Wenzhou , Zhejiang , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiufeng","family":"Huang","sequence":"additional","affiliation":[{"name":"Zhejiang Provincial Clinical Research Center for Pediatric Disease , The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University , Wenzhou , Zhejiang , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiping","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Heredity and Metabolism , The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University , Wenzhou , Zhejiang , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoou","family":"Shan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Heredity and Metabolism , The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University , Wenzhou , Zhejiang , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,10,17]]},"reference":[{"key":"2026051215122191948_j_jpem-2025-0213_ref_001","doi-asserted-by":"crossref","unstructured":"McDonald, TJ, Ellard, S. 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