Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report.

Abstract

No reproductive studies have been performed with enzyme replacement therapy (ERT) for Fabry disease (FD, OMIM 301500), a lysosomal storage disorder. Therefore, use during pregnancy is theoretically contraindicated. We report the first case of agalsidase beta treatment throughout pregnancy. High-range proteinuria remained stable and the patient gave birth to a healthy boy after an uncomplicated pregnancy. The decision to administer ERT during pregnancy should be made on an individual basis, considering the FD status and possible risks.

• Authors: Dominique P Germain, Patrick Bruneval, Thi-Chien Tran, Pierre Balouet, Bernard Richalet, Karelle Benistan
• Journal: European journal of medical genetics (Eur J Med Genet) 2010 Mar-Apr Vol. 53 Issue 2 Pg. 111-2 ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 20045092 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2009 Elsevier Masson SAS. All rights reserved.

Chemical References

• Isoenzymes
• Recombinant Proteins
• alpha-Galactosidase
• agalsidase beta

Topics

• Adult
• Enzyme Therapy
• Fabry Disease (genetics, therapy)
• Female
• Heterozygote
• Humans
• Isoenzymes (therapeutic use)
• Maternal Exposure
• Mutation, Missense
• Pregnancy
• Pregnancy Outcome
• Recombinant Proteins (therapeutic use)
• alpha-Galactosidase (genetics, therapeutic use)