Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature


Koyuncu K., TURGAY B., Aytac R., Soylemez F.

Obstetric Medicine, vol.10, no.3, pp.150-151, 2017 (Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 3
  • Publication Date: 2017
  • Doi Number: 10.1177/1753495x16688601
  • Journal Name: Obstetric Medicine
  • Journal Indexes: Scopus
  • Page Numbers: pp.150-151
  • Keywords: complications, delivery, Perinatal medicine, Pompe disease, postpartum management
  • Ankara Yıldırım Beyazıt University Affiliated: No

Abstract

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.