Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Replacement Therapy for Gaucher Disease during Pregnancy: A Case Report

Authors
Stefano Giannubilo
Angela Pasculli
Elisa Tidu
Andrea Ciavattini
Department of Clinical Sciences, Polytechnic University of Marche, Ancona, Italy
Abstract
Background: Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase enzyme. In this study, a case of enzyme-treated woman during her pregnancy was reported. Case Presentation: A 27-year old woman with type I Gaucher disease was managed for pregnancy until delivery. She underwent elective splenectomy at age 26 years and was treated with 19-38 units/kg of imiglucerase. A conservative approach with close monitoring of both mother and baby was planned. Results: In the 39th week of pregnancy, a healthy male baby of 3180 g was delivered via cesarean section. Conclusion: Apart from mild hematological complications, the pregnancy, the delivery and the puerperium were uneventful. In this case report, the issue of therapy and risk assessment in pregnancy in patients with type I Gaucher disease was discussed.
Keywords
Delivery
Gaucher disease
Imiglucerase
Pregnancy
splenectomy
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Journal of Reproduction & Infertility
Volume 16, Issue 1
Winter 2015
Pages 53-57