Treatment with agalsidase beta during pregnancy in Fabry disease.

Author(s): Politei JM

Affiliation(s): Neurology and Lysosomal Disorders Service, Juan A. Fernandez Hospital, Buenos Aires, Argentina. jpolitei@hotmail.com

Publication date & source: 2010-04, J Obstet Gynaecol Res., 36(2):428-9.

Publication type: Case Reports

Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase A, which leads to excessive accumulation of glycosphingolipids in most tissues in the body, with life-threatening clinical consequences in the kidney, heart, and cerebrovascular system. Enzyme replacement therapy using exogenously produced alpha-galactosidase has been available for treatment of this multisystem progressive disease since 2001. Two different preparations of enzyme replacement therapy for Fabry disease are available outside of the USA: agalsidase alfa and agalsidase beta. Despite being X-linked, Fabry disease affects many female patients, and this report presents a successful pregnancy of a female patient receiving agalsidase beta.