Chen Huan, Fei Si-Jia, Deng Ming-Qun, Chen Xin-Da, Wang Wei-Hao, Guo Li-Xin, Pan Qi
Department of Endocrinology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.
Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
World J Diabetes. 2023 Dec 15;14(12):1877-1884. doi: 10.4239/wjd.v14.i12.1877.
Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr) mutation is extremely rare, with only two reported studies to date. Herein, we report another case that differs from previous cases in phenotype.
The proband developed diabetes at the age of 27 years, despite having a normal body mass index (BMI). She exhibited partial impairment of islet function, tested positive for islet antibodies, and required high doses of insulin. Her sister also carried the c.4G>A (p.Ala2Thr) mutation, and their mother was strongly suspected to carry the mutated gene. Her sister developed diabetes around 40 years of age and required high doses of insulin, while the mother was diagnosed in her 20s and was managed with oral hypoglycemic agents; neither of them were obese.
p.Ala2Thr mutation carriers often experience relatively later onset and normal BMI. Treatment regimens vary between individuals.
由c.4G>A（p.Ala2Thr）突变引起的青年发病型糖尿病10极为罕见，迄今为止仅有两项报道研究。在此，我们报告另一例在表型上与先前病例不同的病例。
先证者在27岁时患糖尿病，尽管其体重指数（BMI）正常。她表现出胰岛功能部分受损，胰岛抗体检测呈阳性，且需要高剂量胰岛素治疗。她的姐姐也携带c.4G>A（p.Ala2Thr）突变，她们的母亲被高度怀疑携带突变基因。她的姐姐在40岁左右患糖尿病，需要高剂量胰岛素治疗，而母亲在20多岁时被诊断出糖尿病，采用口服降糖药治疗；她们两人均不肥胖。
p.Ala2Thr突变携带者通常发病相对较晚且BMI正常。个体之间的治疗方案有所不同。
