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Pregnancy in Gaucher disease [Grossesse et maladie de Gaucher]

机译:高雪病的怀孕

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Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase. The association with pregnancy exposes the worsening of the disease and complications of pregnancy and puerperium. We report a case of pregnancy in a woman of 35 years, suffering from Gaucher disease type 1. Pregnancy had a favorable outcome. Complications occurred. They were kept under control. The outcome was favorable. The authors discuss the evolution of the disease during pregnancy and management of complications. They can occur during pregnancy, post-partum and breastfeeding. Support begins with preconception consultation. It involves finding and correcting the biological problems and deficiencies, and management of complications. Genetic counseling is important, it helps prevent inbreeding.
机译:高雪氏病是由于葡萄糖脑苷脂酶缺乏引起的溶酶体贮积病。与怀孕的联系暴露出疾病的恶化以及怀孕和产褥期的并发症。我们报告了一名35岁,患有1型高雪(Gaucher)疾病的女性的怀孕情况。怀孕的结果良好。发生并发症。他们受到控制。结果令人满意。作者讨论了怀孕期间疾病的发展和并发症的处理。它们可以在怀孕,产后和母乳喂养期间发生。支持从孕前咨询开始。它涉及发现和纠正生物学问题和不足以及并发症的管理。遗传咨询很重要,它有助于防止近亲繁殖。

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