{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T15:15:36Z","timestamp":1780672536019,"version":"3.54.1"},"reference-count":22,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100011493","name":"Taizhou Municipal Science and Technology Bureau","doi-asserted-by":"publisher","award":["2024ywb180"],"award-info":[{"award-number":["2024ywb180"]}],"id":[{"id":"10.13039\/501100011493","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017594","name":"Medical Science and Technology Project of Zhejiang Province","doi-asserted-by":"publisher","award":["2023XY238"],"award-info":[{"award-number":["2023XY238"]}],"id":[{"id":"10.13039\/501100017594","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Sage Open Medical Case Reports"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    Hepatocyte nuclear factor 1\u03b2 (\n                    <jats:italic toggle=\"yes\">HNF1\u03b2<\/jats:italic>\n                    )-related disease is a rare autosomal dominant genetic disorder. It presents with diverse clinical phenotypes and involves multiple systems. We report a heterozygous c.544C&gt;T mutation in the\n                    <jats:italic toggle=\"yes\">HNF1\u03b2<\/jats:italic>\n                    gene identified in three members of a Han Chinese family. All patients presented with renal cysts, renal impairment, hyperuricemia, hypomagnesemia, and hyperparathyroidism. Only the proband exhibited hyperglycemia, pancreatic dysplasia, and genital malformations. The older son presented with asymptomatic elevation of liver enzymes, while the younger son had left renal hypoplasia. Whole exome sequencing revealed a nonsense mutation of\n                    <jats:italic toggle=\"yes\">HNF1\u03b2<\/jats:italic>\n                    gene in the proband and his two sons (NM_000458.4: c.544C&gt;T: p. Gln182Ter). The proband underwent renal replacement therapy for end-stage renal disease. His son received high-quality, low-protein diet combined with medication for renal protection, uric acid reduction, and hypomagnesemia correction. The older son received ursodeoxycholic acid and hepatoprotective drugs to normalize liver enzyme levels. All patients showed significant symptom improvement after treatment during the long-term follow-up. This case report highlights the multi-organ involvement, diagnostic challenges, and importance of comprehensive genetic analysis in\n                    <jats:italic toggle=\"yes\">HNF1\u03b2<\/jats:italic>\n                    -related disease. Recognition of this condition can reduce unnecessary kidney biopsies and minimize misdiagnosis and missed diagnosis.\n                  <\/jats:p>","DOI":"10.1177\/2050313x251408697","type":"journal-article","created":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T06:27:10Z","timestamp":1766471230000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Atypical presentation of\n                    <i>HNF1\u03b2<\/i>\n                    gene mutation mimicking type 2 diabetes: Case report and literature review"],"prefix":"10.1177","volume":"13","author":[{"given":"Xiuchuan","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Liangzhu Sub-District Community Health Service Center, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Miao","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Liangzhu Sub-District Community Health Service Center, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengna","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Liangzhu Sub-District Community Health Service Center, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tapas R.","family":"Behera","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology, Cleveland Clinic, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beilei","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Tiantai People\u2019s Hospital, Taizhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1507-7035","authenticated-orcid":false,"given":"Meixia","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Tiantai People\u2019s Hospital, Taizhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,12,22]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2017.11.026"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2014.202"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.13426"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.11.3126"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-140-7-200404060-00009"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2009.00571.x"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3348\/kjr.2013.14.6.905"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12111"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.225"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/316945"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfh348"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-4188-8"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25084552"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00903.x"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/81543"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M414121200"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-00955"},{"key":"e_1_3_3_20_2","first-page":"3326","article-title":"Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type 5","volume":"123","author":"Chen YZ","year":"2010","unstructured":"Chen YZ, Gao Q, Zhao XZ, et al. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type 5. Chin Med J (Engl) 2010; 123: 3326\u20133333.","journal-title":"Chin Med J (Engl)"},{"key":"e_1_3_3_21_2","first-page":"327","article-title":"Late-onset cholestasis with paucity of portal area secondary to HNF1\u03b2 deficiency in adulthood: a case report","volume":"12","author":"Zhang X","year":"2024","unstructured":"Zhang X, Liu K, Lu X, et al. Late-onset cholestasis with paucity of portal area secondary to HNF1\u03b2 deficiency in adulthood: a case report. J Clin Transl Hepatol 2024; 12: 327\u2013331.","journal-title":"J Clin Transl Hepatol"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.24292"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/dom.12715"}],"container-title":["Sage Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X251408697","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X251408697","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X251408697","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T20:35:43Z","timestamp":1769373343000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X251408697"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":22,"alternative-id":["10.1177\/2050313X251408697"],"URL":"https:\/\/doi.org\/10.1177\/2050313x251408697","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]},"article-number":"2050313X251408697"}}