de Laat Paul, Fleuren Leanne H J, Bekker Mireille N, Smeitink Jan A M, Janssen Mirian C H
Radboudumc Amalia Children's Hospital, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Nijmegen, The Netherlands.
Radboudumc Amalia Children's Hospital, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Nijmegen, The Netherlands.
Mitochondrion. 2015 Nov;25:98-103. doi: 10.1016/j.mito.2015.10.005. Epub 2015 Oct 9.
The mitochondrial DNA m.3243A>G mutation is the most prevalent mutation causing mitochondrial disease in adult patients. Aside from some case reports, there are no studies on obstetric complications in a cohort of m.3243A>G carriers. We aimed to identify the prevalence of obstetric complications in a cohort of women carrying the m.3243A>G mutation.
All female carriers of the m.3243A>G mutation known from our previous national inventory were sent a questionnaire regarding their obstetric history. Data were compared to national references. Data from the national inventory, including NMDAS (disease severity) scores and heteroplasmy levels in urinary epithelial cells (UEC) were used to stratify women.
Sixty women participated, the mean age was 47 years (range 20-70), mean NMDAS was 14.6 (range 0-46), and mean heteroplasmy percentage in UEC was 19.9% (range 5-85%). Ninety-eight pregnancies in 46 women were reported. Twenty-three (25.3%) had a premature delivery and five of them (5.5%) had a gestation of ≤ 32 weeks and eleven of the women (12%) suffered from preeclampsia. No different heteroplasmy level was found in the women with preeclampsia. Nine pregnancies (11%) were complicated by gestational diabetes.
Obstetric complications occur frequently in carriers of the m.3243A>G mutation. Proper guidance during pregnancies and early detection of possible obstetric complications are needed. As techniques to prevent transmission of mitochondrial mutations are studied it is important to know the possible complications patients may experience from the ensuing pregnancy.
线粒体DNA m.3243A>G突变是成年患者中导致线粒体疾病的最常见突变。除了一些病例报告外，尚无关于m.3243A>G携带者队列中产科并发症的研究。我们旨在确定携带m.3243A>G突变的女性队列中产科并发症的患病率。
向我们之前全国性调查中已知的所有m.3243A>G突变女性携带者发送了一份关于她们产科病史的问卷。将数据与全国参考数据进行比较。来自全国性调查的数据，包括NMDAS（疾病严重程度）评分和尿上皮细胞（UEC）中的异质性水平，用于对女性进行分层。
60名女性参与，平均年龄为47岁（范围20 - 70岁），平均NMDAS为14.6（范围0 - 46），UEC中的平均异质性百分比为19.9%（范围5 - 85%）。报告了46名女性的98次妊娠。23例（25.3%）早产，其中5例（5.5%）妊娠≤32周，11名女性（12%）患有先兆子痫。先兆子痫女性中未发现不同的异质性水平。9次妊娠（11%）并发妊娠期糖尿病。
m.3243A>G突变携带者中产科并发症频繁发生。孕期需要适当的指导以及早期发现可能的产科并发症。随着预防线粒体突变传播技术的研究，了解患者在后续妊娠中可能经历的并发症非常重要。
