Baretić Maja, Caban Domagoj, Sertić Jadranka
Division of Endocrinology and Diabetes, Department of Internal Medicine, University Hospital Centre Zagreb, Kišpatićeva 12, 10000 Zagreb, Croatia.
School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.
J Pers Med. 2023 Jun 28;13(7):1063. doi: 10.3390/jpm13071063.
Mutation of the gene encoding Hepatocyte Nuclear transcription Factor-1 Beta (HNF1B) causes a rare monogenetic subtype of Maturity-Onset Diabetes of the Young (MODY). HNF1B-related MODY results in the dysfunction of multiple organ systems. However, genetic analysis enables personalized medicine for patients and families.
To understand the clinical characteristics and explore the gene mutations in Croatian patients.
This was a retrospective observational study of individuals (and their relatives) who were, due to the clinical suspicion of MODY, referred to the Department of Laboratory Diagnostics at the University Hospital Centre Zagreb for genetic testing.
A total of 118 participants, 56% females, were screened. Seven patients (three females) from five families were identified to have HNF1B-related MODY. The median age at diagnosis was 31 (11-45) years, the median c-peptide was 0.8 (0.55-1.39) nmol/L, the median HbA1c was 9.1 (5.7-18.4)%, and the median BMI was 22.9 kg/m (17-24.6). Patients had a variety of clinical manifestations; kidney disease was not as frequent as liver lesions, neuropsychiatric symptoms, hyperlipidemia, hyperuricemia, and hypomagnesemia. We identified two new pathogenic mutations (c.1006C > G protein p.His336Asp on exon 4 and c.1373T > G p protein Val458Gly on exon 7).
In a study involving Croatian patients, new genetic (two previously unknown mutations) and clinical (diverse range of clinical presentations) aspects of HNF1B-related MODY were found.
编码肝细胞核转录因子-1β（HNF1B）的基因突变会导致一种罕见的青年发病型成年糖尿病（MODY）单基因亚型。与HNF1B相关的MODY会导致多器官系统功能障碍。然而，基因分析可为患者及其家庭提供个性化医疗。
了解克罗地亚患者的临床特征并探索基因突变情况。
这是一项对因临床怀疑MODY而被转诊至萨格勒布大学医院中心实验室诊断科进行基因检测的个体（及其亲属）的回顾性观察研究。
共筛查了118名参与者，其中56%为女性。来自五个家庭的七名患者（三名女性）被确定患有与HNF1B相关的MODY。诊断时的中位年龄为31（11 - 45）岁，中位C肽为0.8（0.55 - 1.39）nmol/L，中位糖化血红蛋白为9.1（5.7 - 18.4）%，中位体重指数为22.9 kg/m²（17 - 24.6）。患者有多种临床表现；肾脏疾病不如肝脏病变、神经精神症状、高脂血症、高尿酸血症和低镁血症常见。我们鉴定出两个新的致病突变（外显子4上的c.1006C > G，蛋白质p.His336Asp和外显子7上的c.1373T > G，p蛋白质Val458Gly）。
在一项涉及克罗地亚患者的研究中，发现了与HNF1B相关的MODY的新的遗传（两个先前未知的突变）和临床（多种临床表现）方面的情况。
