Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature
Obstetric Medicine, cilt.10, sa.3, ss.150-151, 2017 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 10 Sayı: 3
- Basım Tarihi: 2017
- Doi Numarası: 10.1177/1753495x16688601
- Dergi Adı: Obstetric Medicine
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.150-151
- Anahtar Kelimeler: complications, delivery, Perinatal medicine, Pompe disease, postpartum management
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
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.