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怀孕后果与母亲的HNF1B基因突变和17q12删除

Adam Morton¹, Ling Li¹, Caroline Wilson¹

¹Obstetric Medicine, Mater Health, South Brisbane, Australia.

Obstetric medicine

|July 13, 2023

概括

较罕见的HNF1-β和17q12缺失突变与高风险怀孕和不良结果有关. 早期识别母亲的特征对于预孕咨询至关重要.

科学领域:

内分泌学在内分泌学.
遗传学是一个遗传学.
产科产科产科产科产科

背景情况:

单一的糖尿病文献经常侧重于常见的葡萄糖酶 (MODY2) 和HNF1-α (MODY3) 突变.
较罕见的突变,如HNF1-β突变和17q12缺失,记录较少.
这些较罕见的遗传变异与多器官功能障碍有关,特别是病和糖尿病,导致高风险怀孕.

研究的目的:

描述 HNF1-β 突变或 HNF1B/17q12 缺失的个体的妊娠结果.
审查有关与这些罕见遗传疾病相关的怀孕结果的现有文献.
突出显示这些诊断的母亲特征,以改善预孕咨询.

主要方法:

一系列病例描述了三个妇女的妊娠结果:一个患有HNF1-β突变,两个患有HNF1B/17q12缺失.
对之前发表的关于怀孕期间HNF1-β突变和17q12缺失的研究进行了全面的文献综述.

主要成果:

该研究在描述的病例和文献中发现了母亲和胎儿不良结果的显著率.
发现了特定的母亲特征,表明HNF1-β突变和17q12缺失.
患有这些遗传病的女性怀孕会带来很大的风险.

结论:

HNF1-β突变和17q12缺失与高发性不良妊娠结果有关.
识别暗示性母亲特征对于及时诊断和管理至关重要.
对于患有或有这些遗传疾病风险的妇女来说,预孕咨询是必不可少的.

关键词:

17q12 删除删除删除在MODY5中,我们使用了MODY5.年轻人的成熟期糖尿病.

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