Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report.
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.
Germain
Dominique P
DP
Division of Medical Genetics, Hôpital Raymond Poincaré (AP-HP), 92380 Garches, France. dominique.germain@rpc.aphp.fr
Bruneval
Patrick
P
Tran
Thi-Chien
TC
Balouet
Pierre
P
Richalet
Bernard
B
Benistan
Karelle
K
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*
D007527:Isoenzymes; D011994:Recombinant Proteins; D000519:alpha-Galactosidase; C459420:agalsidase beta