title: 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.affiliation: Division of Medical Genetics, Hôpital Raymond Poincaré (AP-HP), 92380 Garches, France. dominique.germain@rpc.aphp.fr
authors.forename: Dominique P
authors.initials: DP
authors.lastname: Germain
authors.forename: Patrick
authors.initials: P
authors.lastname: Bruneval
authors.forename: Thi-Chien
authors.initials: TC
authors.lastname: Tran
authors.forename: Pierre
authors.initials: P
authors.lastname: Balouet
authors.forename: Bernard
authors.initials: B
authors.lastname: Richalet
authors.forename: Karelle
authors.initials: K
authors.lastname: Benistan
mesh_terms: D000328:Adult; D057487:Enzyme Therapy; D000795:Fabry Disease / Q000235:genetics* / Q000628:therapy*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use*; D018811:Maternal Exposure; D020125:Mutation, Missense; D011247:Pregnancy; D011256:Pregnancy Outcome; D011994:Recombinant Proteins / Q000627:therapeutic use; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D011994:Recombinant Proteins; D000519:alpha-Galactosidase; C459420:agalsidase beta