MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore

Autor: Clara Si Hua Tan MSc, Su Fen Ang PhD, Ester Yeoh MBBS, MRCP, M.Med, FAMS, FRCP, Bing Xing Goh MBBS, Wann Jia Loh MBBS, MRCP, M.Med, Cheuk Fan Shum MBBS, MRCSEd, M.Med (Surgery), FAMS, Molly May Ping Eng MB, BCh, BAO, MRCS, FRCSI, Allen Yan Lun Liu MBChB, MRCP, Lovynn Wan Ting Chan BSc, Li Xian Goh Dip, Tavintharan Subramaniam MBBS, MRCP, FRCP, FAM, Chee Fang Sum MBBS, FRCP, FACE, FAMS, Su Chi Lim MBBS, MRCP, FRCP, FAMS, PhD
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Journal of Investigative Medicine High Impact Case Reports, Vol 10 (2022)
Druh dokumentu: article
ISSN: 2324-7096
23247096
DOI: 10.1177/23247096211065626
Popis: 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.
Databáze: Directory of Open Access Journals
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