Fujita Yuki, Tanaka Daisuke, Tatsuoka Hisato, Matsubara Miho, Hyo Takanori, Hamamoto Yoshiyuki, Komiya Toshiyuki, Inagaki Nobuya, Seino Yutaka, Yamazaki Yuji
Center for Diabetes, Endocrinology & Metabolism, Kansai Electric Power Hospital, Osaka, Japan.
Yutaka Seino Distinguished Center for Diabetes Research, Kansai Electric Power Medical Research Institute, Kobe, Japan.
Endocrinol Diabetes Metab Case Rep. 2020 Sep 23;2020. doi: 10.1530/EDM-20-0092.
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.
Genetic diagnosis of MODY is relevant for appropriate treatment. Dominantly inherited early-onset diabetes mellitus with renal cysts suggests MODY5. Scanning the non-coding regions is important for not missing a mutation in HNF1B.
青年发病的成年型糖尿病（MODY）是一种单基因糖尿病，其特征为发病早且呈显性遗传。常出现延迟诊断或误诊为1型或2型糖尿病的情况。明确的基因诊断对于MODY患者的恰当治疗至关重要。肝细胞核因子1β（HNF1B）基因与MODY5型（MODY5）相关，MODY5具有包括肾脏疾病在内的独特临床特征。临床医生对于早发糖尿病且有肾脏异常的患者应始终考虑MODY5。我们报告一例30岁日本男性患者，患有早发糖尿病、肾脏异常且有提示MODY5的糖尿病家族史。肾脏组织学检查未发现糖尿病肾病证据。基因检测在家庭成员中发现了一种新的HNF1B基因杂合剪接位点突变。强烈提示该突变可能是我们这位患者患MODY5的病因。
MODY的基因诊断对于恰当治疗很重要。显性遗传的早发糖尿病伴肾囊肿提示MODY5。扫描非编码区对于不遗漏HNF1B基因的突变很重要。
