{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T21:44:05Z","timestamp":1777671845531,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Medicine High Impact Case Reports"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>From our monogenic diabetes registry set-up at a secondary-care diabetes center, we identified a nontrivial subpopulation (~15%) of maturity-onset diabetes of the young (MODY) among people with young-onset diabetes. In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY). Between 2013 and 2020, we received 267 referrals to evaluate MODY from endocrinologists in both public and private practice. Every participant was subjected to a previously reported structured evaluation process, high-throughput nucleotide sequencing and gene-dosage analysis. Out of 40 individuals with confirmed MODY, 4 (10%) had HNF1B-MODY (harboring either a HNF1B whole-gene deletion or duplication). Postsequencing follow-up biochemical and radiological evaluations revealed the known HNF1B-MODY associated systemic-features, such as transaminitis and structural renal-lesions. These anomalies could have been missed without prior knowledge of the nucleotide-sequencing results. Interestingly, preliminary longitudinal observation (up to 15 years) suggested possibly 2 distinct patterns of renal-deterioration (albuminuric vs. nonalbuminuric chronic kidney disease). Monogenic diabetes like HNF1B-MODY may be missed among young-onset diabetes in a resource-limited routine-care clinic. Collaboration with a MODY-evaluation center may fill the care-gap. The long-term renal-trajectories of HNF1B-MODY will require further studies by dedicated registries and international consortium.<\/jats:p>","DOI":"10.1177\/23247096211065626","type":"journal-article","created":{"date-parts":[[2022,1,18]],"date-time":"2022-01-18T01:04:52Z","timestamp":1642467892000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["MODY5 Hepatocyte Nuclear Factor 1\u00df (HNF1\u00df)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore"],"prefix":"10.1177","volume":"10","author":[{"given":"Clara Si","family":"Hua Tan","sequence":"first","affiliation":[{"name":"Clinical Research Unit, Khoo Teck Puat Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su Fen","family":"Ang","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Khoo Teck Puat Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ester","family":"Yeoh","sequence":"additional","affiliation":[{"name":"Diabetes Centre, Admiralty Medical Centre, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4519-2849","authenticated-orcid":false,"given":"Bing Xing","family":"Goh","sequence":"additional","affiliation":[{"name":"Diabetes Centre, Admiralty Medical Centre, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5593-907X","authenticated-orcid":false,"given":"Wann Jia","family":"Loh","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Changi General Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheuk Fan","family":"Shum","sequence":"additional","affiliation":[{"name":"Department of Surgery, Woodlands Health Campus, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Molly","family":"May Ping Eng","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Khoo Teck Puat Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allen","family":"Yan Lun Liu","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Khoo Teck Puat Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lovynn","family":"Wan Ting Chan","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Khoo Teck Puat Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li Xian","family":"Goh","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Khoo Teck Puat Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tavintharan","family":"Subramaniam","sequence":"additional","affiliation":[{"name":"Diabetes Centre, Admiralty Medical Centre, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chee Fang","family":"Sum","sequence":"additional","affiliation":[{"name":"Diabetes Centre, Admiralty Medical Centre, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3361-7512","authenticated-orcid":false,"given":"Su Chi","family":"Lim","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Khoo Teck Puat Hospital, Singapore"},{"name":"Diabetes Centre, Admiralty Medical Centre, Singapore"},{"name":"Saw Swee Hock School of Public Health, National University of Singapore, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,1,17]]},"reference":[{"key":"bibr1-23247096211065626","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-384"},{"key":"bibr2-23247096211065626","doi-asserted-by":"publisher","DOI":"10.1186\/s40842-020-00112-5."},{"key":"bibr3-23247096211065626","doi-asserted-by":"publisher","DOI":"10.2217\/dmt.13.59"},{"key":"bibr4-23247096211065626","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-00955"},{"key":"bibr5-23247096211065626","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-3990-7"},{"key":"bibr6-23247096211065626","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"bibr7-23247096211065626","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-306810"},{"key":"bibr8-23247096211065626","unstructured":"Mitchel MW, Moreno-De-Luca D, Myers SM, et al. 17q12 recurrent deletion syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews\u00ae [Internet]. Seattle: University of Washington, Seattle; 1993-2021. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK401562\/. Published October 15, 2020. 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