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首页> 外文期刊>Obstetric medicine >Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature
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Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature

机译：具有Pompe疾病的患者的递送和产后管理：案例报告和文献审查

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摘要

Pompe disease is an autosomal-recessive disorder caused by acid alpha-glucosidase deficiency due to mutations in the GAA gene. There are two forms of the disease: infantile-onset Pompe disease and late-onset Pompe disease. The worldwide incidence of both forms of the disease is commonly reported to be 1 in 40,000. Adult patients are affected by limb-girdle muscular weakness and respiratory insufficiency. Enzyme replacement therapy with alglucosidase-alpha is available since 2006. There is little knowledge about pregnant woman with Pompe disease. These women should be considered as high-risk pregnant women. Here, we aim to present Cesarean delivery and postpartum management of a case with an interrupted enzyme replacement therapy during pregnancy.
机译：Pompe疾病是由于GaA基因中的突变引起的酸性α-葡糖苷酶缺乏症引起的常染色体隐性疾病。 存在两种形式的疾病：婴儿发病性POPPE疾病和晚期蓬松群病。 全球两种疾病的发病率通常报告为40,000人。 成年患者受到肢体肌肉肌肉弱点和呼吸功能不全的影响。 自2006年以来，酶替代疗法与alglucosidase-alpha获得..对孕妇患有Pompe疾病的妇女知之甚少。 这些妇女应被视为高风险的孕妇。 在这里，我们的目标是在怀孕期间呈现患有中断酶替代疗法的剖宫产递送和产后管理。

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