Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Department of Internal Medicine, Isala Diabetes Center, Zwolle, the Netherlands.
Liver Int. 2019 Nov;39(11):2042-2045. doi: 10.1111/liv.14235. Epub 2019 Sep 13.
Hepatocyte nuclear factor 1A (HNF1A) maturity-onset diabetes of the young (MODY) is a monogenetic, autosomal dominantly inherited form of diabetes. HNF1A-MODY is associated with HNF1A-inactivated hepatocellular adenoma (H-HCA) formation. Hepatocellular adenoma (HCA) are benign liver tumours and related complications are rare but serious: hepatic haemorrhage and malignant transformation. Guidelines recommend resection of all HCA in men and do not take any co-occurring metabolic disorders into account. We report a family with HCA preceding diabetes mellitus. Male index patient presented with numerous, irresectable HCA. After initial diagnostic and aetiologic uncertainty HNF1A germline mutation c.815G>A (p.Arg272His) was confirmed 8 years later. No HCA-related complications occurred. His diabetic mother was diagnosed with HCA after severe hepatic haemorrhage years before. HNF1A-MODY should be considered in (non-)diabetic (male) patients with H-HCA. We advocate liver biopsy and, if necessary, genetic analysis to precede any intervention for HCA in males and screening for HCA in HNF1A-MODY patients.
肝细胞核因子 1A（HNF1A）青年发病的成年型糖尿病（MODY）是一种单基因、常染色体显性遗传的糖尿病形式。HNF1A-MODY 与 HNF1A 失活的肝细胞腺瘤（H-HCA）形成有关。肝细胞腺瘤（HCA）是良性肝肿瘤，相关并发症罕见但严重：肝出血和恶性转化。指南建议对所有男性 HCA 进行切除，且不考虑任何同时存在的代谢紊乱。我们报告了一个先出现肝肿瘤后出现糖尿病的家族。男性指数患者表现出许多不可切除的 HCA。在最初的诊断和病因不确定 8 年后，证实存在 HNF1A 种系突变 c.815G>A（p.Arg272His）。未发生与 HCA 相关的并发症。他患有糖尿病的母亲在严重肝出血多年前被诊断出患有 HCA。（非）糖尿病（男性）患者出现 H-HCA 时应考虑 HNF1A-MODY。我们主张在男性进行 HCA 干预之前进行肝活检，如果有必要，还应进行基因分析，并对 HNF1A-MODY 患者进行 HCA 筛查。
