庞贝病合并妊娠的管理。
Management of a pregnancy complicated by pompe disease.
作者信息
Weida Jennifer, Hainline B E, Bodkin C, Williams M K
机构信息
Division of Clinical and Biochemical Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, IB 130, Indianapolis, IN 46202, USA.
出版信息
Case Rep Obstet Gynecol. 2012;2012:137861. doi: 10.1155/2012/137861. Epub 2012 Dec 10.
Background. As more women with metabolic muscle diseases reach reproductive age, knowledge of these diseases and their impact on pregnancy is necessary. Case. 23-year-old G1P0 with juvenile-onset Pompe disease (PD) delivered a viable infant by cesarean section at 32 weeks and 6 days. The pregnancy was complicated by worsening maternal pulmonary status, muscular strength, and mobility. Conclusion. The management of pregnancies complicated by Pompe disease requires a multidisciplinary approach, including expertise in neuromuscular disease, maternal-fetal medicine, biochemical genetics, pulmonology, anesthesia, and dietetics.
背景。随着越来越多患有代谢性肌肉疾病的女性达到生育年龄，了解这些疾病及其对妊娠的影响很有必要。病例。一名23岁、孕1产0、患有青少年型庞贝病（PD）的女性在孕32周零6天时通过剖宫产分娩出一名存活婴儿。妊娠过程中出现了母亲肺部状况、肌肉力量和活动能力恶化的并发症。结论。对合并庞贝病的妊娠进行管理需要多学科方法，包括神经肌肉疾病、母胎医学、生化遗传学、肺病学、麻醉学和营养学方面的专业知识。
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