Morton Adam, Li Ling, Wilson Caroline
Obstetric Medicine, Mater Health, South Brisbane, Australia.
Obstet Med. 2023 Jun;16(2):78-82. doi: 10.1177/1753495X221109734. Epub 2022 Jun 27.
There is an increasing body of literature regarding monogenic diabetes, particularly the more common forms of glucokinase and mutations (MODY2 and MODY3). There is relatively little published literature regarding rarer mutations. mutations and 17q12 deletions may be associated with a broad range of organ dysfunction, renal disease and diabetes in particular resulting in high-risk pregnancies. This manuscript describes pregnancy outcomes in a woman with an mutation and 2 women with an /17q12 deletion and reviews the previously published literature. It highlights the significant rate of adverse maternal and fetal outcomes, and the maternal features suggestive of the diagnosis which should be considered in preconception counselling.
关于单基因糖尿病，尤其是较为常见的葡萄糖激酶突变（MODY2和MODY3），相关文献越来越多。而关于罕见突变的已发表文献相对较少。某些突变和17号染色体长臂12区缺失可能与广泛的器官功能障碍有关，尤其是肾脏疾病和糖尿病，进而导致高危妊娠。本手稿描述了一名携带某种突变的女性以及两名携带某种/17q12缺失的女性的妊娠结局，并回顾了此前发表的文献。它强调了孕产妇和胎儿不良结局的显著发生率，以及在孕前咨询中应考虑的提示该诊断的孕产妇特征。
