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

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

OBSTETRIC MEDICINE, cilt.10, sa.3, ss.150-151, 2017 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 10 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1177/1753495x16688601
  • Dergi Adı: OBSTETRIC MEDICINE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.150-151
  • Anahtar Kelimeler: Perinatal medicine, complications, Pompe disease, delivery, postpartum management, ENZYME REPLACEMENT THERAPY, PREGNANCY, WOMEN
  • Ankara Üniversitesi Adresli: Evet

Özet

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.