Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Jinan, China.
Cheeloo College of Medicine, Shandong University, Department of Endocrinology and Metabology, Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational medicine, Shandong Institute of Nephrology, Jinan, China.
Front Endocrinol (Lausanne). 2022 Jun 30;13:911526. doi: 10.3389/fendo.2022.911526. eCollection 2022.
Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is very easy to be misdiagnosed as type 2 diabetes. To get better understanding of the disease, we analyzed the clinical characteristics and gene mutations of MODY5.
PubMed, Cochrane, the China National Knowledge Infrastructure, and Wanfang were searched with the following search terms: "MODY5" OR "HNF1B maturity-onset diabetes of the young" OR "maturity-onset diabetes of the young type 5" OR "renal cysts and diabetes syndrome". Clinical characteristics and gene mutations of MODY5 were analyzed. The demography, clinical characteristics, and blood indicators of patients were described utilizing simple summary statistics. Variables were analyzed by t-test, Wilcoxon signed rank test, and Fisher exact test. Spearman's correlation analysis was used for bi-variate analysis. All tests were two-sided, and a -value < 0.05 was considered statistically significant. Statistical analysis was performed using the Statistical Package for the Social Sciences version 26 for Windows (SPSS).
A total of 48 literatures were included in this study, including 61 eligible patients and 4 different mutations. Of the 39 patients with available body weight index, 15 (38.46%) were underweight, 21 (53.85%) were normal weight and 3 (7.69%) were overweight or obese. Of the 38 patients with available family history, 25 (65.79%) reported a family history of diabetes. Of the 34 patients with available age of diabetes diagnosis, the median age of diabetes diagnosis was 16.00 years old and 88.24% (30/34) of patients were under 25 years old when they were first diagnosed with diabetes. Renal cysts were presented in 72.41%, hypomagnesemia in 91.67%, and pancreatic dysplasia in 71.88% of the patients. Patients with hepatocyte nuclear factor 1B (HNF1B) deletion had lower serum magnesium, serum creatinine, and higher eGFR than patients with other gene mutations, and the difference was statistically significant.
The young onset of diabetes with low or normal BMI, renal cysts, hypomagnesemia, and pancreatic dysplasia should be recommended to genetic testing in order to differentiate MODY5 from other types of diabetes earlier.
青年发病的成年型糖尿病 5 型（MODY5）是一种罕见疾病，极易被误诊为 2 型糖尿病。为了更好地了解这种疾病，我们分析了 MODY5 的临床特征和基因突变。
通过检索 PubMed、Cochrane、中国知网和万方数据库，使用以下检索词：“MODY5”或“HNF1B 青年发病的成年型糖尿病”或“青年发病的成年型糖尿病 5 型”或“肾脏囊肿和糖尿病综合征”，分析 MODY5 的临床特征和基因突变。利用简单的总结统计方法描述 MODY5 患者的人口统计学、临床特征和血液指标。采用 t 检验、Wilcoxon 符号秩检验和 Fisher 确切检验对变量进行分析。Spearman 相关分析用于双变量分析。所有检验均为双侧，P 值<0.05 为差异有统计学意义。统计分析采用 Windows 版统计软件包（SPSS）第 26 版。
本研究共纳入 48 篇文献，包括 61 例符合条件的患者和 4 种不同的突变。在 39 例可获得体重指数的患者中，15 例（38.46%）为体重不足，21 例（53.85%）为正常体重，3 例（7.69%）为超重或肥胖。在 38 例可获得家族史的患者中，25 例（65.79%）有糖尿病家族史。在 34 例可获得糖尿病诊断年龄的患者中，糖尿病诊断的中位年龄为 16.00 岁，88.24%（30/34）的患者在首次被诊断为糖尿病时年龄小于 25 岁。72.41%的患者存在肾脏囊肿，91.67%存在低镁血症，71.88%存在胰腺发育不良。肝细胞核因子 1B（HNF1B）缺失的患者血清镁、血清肌酐水平较低，eGFR 较高，与其他基因突变的患者相比，差异有统计学意义。
对于低体重指数或正常体重指数、存在肾脏囊肿、低镁血症和胰腺发育不良的青年起病的糖尿病患者，建议进行基因检测，以便更早地区分 MODY5 与其他类型的糖尿病。
