| Autor: |
Yuki Fujita, Daisuke Tanaka, Hisato Tatsuoka, Miho Matsubara, Takanori Hyo, Yoshiyuki Hamamoto, Toshiyuki Komiya, Nobuya Inagaki, Yutaka Seino, Yuji Yamazaki |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2052-0573 |
| DOI: |
10.1530/EDM-20-0092 |
| Popis: |
Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes mellitus characterised by early onset and dominant inheritance. Delayed diagnosis or misdiagnosis as type 1 or type 2 diabetes mellitus is common. Definitive genetic diagnosis is essential for appropriate treatment of patients with MODY. The hepatocyte nuclear factor 1-beta (HNF1B) gene is responsible for MODY type 5 (MODY5), which has distinctive clinical features including renal disease. MODY5 should always be considered by clinicians in patients with early onset diabetes and renal anomalies. We report a case of a 30-year-old Japanese male with early-onset diabetes mellitus, renal anomalies and family history of diabetes that was suggestive of MODY5. Renal histology showed no evidence of diabetic nephropathy. Genetic testing revealed a novel heterozygous splice-site mutation of the HNF1B gene in the family members. It was strongly suggested that the mutation could underlie our patient’s MODY5. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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