Zhou W, Chen M, Zhou H, Zhang Z
Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
J Postgrad Med. 2019 Oct-Dec;65(4):241-243. doi: 10.4103/jpgm.JPGM_166_19.
We report a 24-year-old female with early-onset and persistent mild fasting hyperglycemia due to glucokinase-maturity-onset diabetes of the young (GCK-MODY). A c.505A>G (p. Lys169Glu) missense mutation of the GCK gene was identified. In silico analysis indicated that the mutation affected a conserved amino acid and is disease-causing. This report describes GCK-MODY in a Chinese family and stresses that in managing this condition it is important to avoid unnecessary drug treatment and excessive anxiety about mild hyperglycemia.
我们报告了一名24岁的女性，因年轻的葡萄糖激酶成熟型糖尿病（GCK-MODY）导致早发且持续的轻度空腹血糖升高。鉴定出GCK基因存在一个c.505A>G（p.Lys169Glu）错义突变。计算机模拟分析表明该突变影响了一个保守氨基酸且具有致病性。本报告描述了一个中国家系中的GCK-MODY，并强调在管理这种疾病时，避免不必要的药物治疗和对轻度高血糖的过度焦虑非常重要。
