PDF(Pubmed)
Abstract：
Maturity-onset diabetes of the young (MODY) is the most common monogenic form of diabetes, accounting for 1-2% of all diabetes cases. At least 14 different MODY subtypes have been identified the most common of which is MODY 2 caused by mutations in the glucokinase (GSK) gene. The mild hyperglycemia of MODY 2 is often first detected during pregnancy. Patients with MODY are usually misdiagnosed as either idiopathic type 1 or type 2 diabetes. The recognition of MODY 2 during pregnancy has important clinical implications as the management of hyperglycemia may differ from the established algorithm in gestational diabetes. Fetus development could be seriously affected in case it has inherited the GSK mutation and maternal hyperglycemia is insulin treated to the pregnancy adopted glycemic targets. The case report describes the stepwise diagnostic approach to a 43-year-old woman with a history of gestational diabetes and persistent prediabetes who was found to be a carrier of a heterozygous pathogenic variant in GSK (c.184G>A) and discusses the possible genotype of her two children according to their birth weight.
摘要：
年轻人的成熟型糖尿病（MODY）是最常见的单基因型糖尿病，占所有糖尿病病例的1-2%。已鉴定出至少14种不同的MODY亚型，其中最常见的是由葡萄糖激酶（GSK）基因突变引起的MODY2。MODY2的轻度高血糖通常在怀孕期间首次检测到。MODY患者通常被误诊为特发性1型或2型糖尿病。妊娠期MODY2的识别具有重要的临床意义，因为高血糖的管理可能不同于妊娠期糖尿病的既定算法。胎儿发育可能会受到严重影响，如果它继承了GSK突变，母体高血糖是胰岛素治疗的妊娠采用的血糖目标。该病例报告描述了对一名43岁女性的逐步诊断方法，该女性有妊娠糖尿病和持续性前驱糖尿病病史，该女性被发现是GSK中杂合致病变异的携带者（c.184G>A），并根据其出生体重讨论了其两个孩子的可能基因型。
