Rengaraj Sasirekha, Thiyagalingam Sutharsika, Kathirvel Vimala, Delhikumar C G
Department of Obstetrics and Gynaecology, JIPMER, Puducherry, India.
Department of Paediatrics, JIPMER, Puducherry, India.
Obstet Med. 2021 Mar;14(1):53-56. doi: 10.1177/1753495X19874573. Epub 2020 Jan 2.
Glucokinase mutation (GCK-MODY) is frequently misdiagnosed as either type I or type II diabetes mellitus, especially if presented for the first time during pregnancy. Generally GCK-MODY affects 1-2% of individuals with a diagnosis of diabetes. The defect in the glucose sensing mechanism in GCK-MODY results in a higher set point for maintenance of glucose homeostasis. Treatment is not recommended outside the pregnancy; however, in pregnancy, fetal abdominal circumference helps to decide about the likelihood of the fetus having inherited the condition and therefore whether insulin is required in pregnancy. We present a case in which GCK-MODY was diagnosed for the first time after pregnancy; the subsequent pregnancy was uneventful. Genetic testing is mandatory to establish the diagnosis. Here the implications of MODY and its subtypes, along with the pattern of inheritance and management aspects are discussed.
葡萄糖激酶突变（GCK-MODY）常被误诊为Ⅰ型或Ⅱ型糖尿病，尤其是首次在孕期出现时。一般来说，GCK-MODY在糖尿病患者中占1%-2%。GCK-MODY中葡萄糖传感机制的缺陷导致维持葡萄糖稳态的设定点更高。非孕期不建议治疗；然而，在孕期，胎儿腹围有助于判断胎儿遗传该疾病的可能性，从而决定孕期是否需要胰岛素治疗。我们报告一例在产后首次诊断为GCK-MODY的病例；随后的妊娠过程顺利。确诊必须进行基因检测。本文讨论了MODY及其亚型的意义、遗传模式和管理方面。
