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Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series

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JIMD Reports, Volume 45

Part of the book series: JIMD Reports ((JIMD,volume 45))

Abstract

Fabry disease is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. There is uncertainty regarding the safety of enzyme replacement therapy during pregnancy. We describe the course and outcome of seven pregnancies in six patients with Fabry disease who continued or reinitiated enzyme replacement therapy during pregnancy. No adverse events, in both mothers and children, were observed.

We describe the course and outcome of seven pregnancies in six patients with Fabry disease who received enzyme replacement therapy during their pregnancies and lactation, without reporting any adverse events.

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Authors and Affiliations

  1. CIDTEF, Centro de Investigación, Diagnóstico y Tratamiento de Enfermedad de Fabry (Research, Diagnosis and Treatment Center for Fabry Disease), San Fernando del Valle de Catamarca, Argentina

    Pehuén Fernández, Shunko Oscar Fernández, Jacqueline Griselda Mariela Gonzalez, Tabaré Fernández, Cinthia Claudia Fernández & Segundo Pastor Fernández

Authors
  1. Pehuén Fernández
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  2. Shunko Oscar Fernández
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  3. Jacqueline Griselda Mariela Gonzalez
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  4. Tabaré Fernández
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  5. Cinthia Claudia Fernández
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  6. Segundo Pastor Fernández
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Corresponding author

Correspondence to Pehuén Fernández .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, LA, USA

    Eva Morava

  2. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Carla E. Hollak, M.D.

Appendices

Conflicts of Interest

The authors received no funding for this work/manuscript.

Compliance with Ethics Guidelines

  • Details of the contributions of individual authors:

    • Pehuén Fernández and Shunko Oscar Fernández: planning (conception and design), conduct (analysis and interpretation of data), and reporting (draft and thorough review)

    • Tabaré Fernández, Jacqueline Griselda Mariela Gonzalez, Cinthia Claudia Fernández, and Segundo Pastor Fernández: planning (conception and design), conduct (analysis and interpretation of data), and reporting (thorough review)

  • The name of the corresponding author and guarantor: Pehuén Fernández

  • Conflict of interest:

    • Tabaré Fernández and Jacqueline Griselda Mariela Gonzalez declare no conflict of interest.

    • Pehuén Fernández and Cinthia Claudia Fernández have received travel reimbursement for symposia attendance from Shire.

    • Shunko Oscar Fernández and Segundo Pastor Fernández have received travel reimbursement for symposia attendance and speaker honoraria from Shire.

  • This study did not receive funding.

  • Informed consent

    • All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study authorizing the use of their data for this publication.

  • This project was approved by the Bioethics Committee of the Hospital Interzonal San Juan Bautista in Catamarca, Argentina.

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© 2018 Society for the Study of Inborn Errors of Metabolism (SSIEM)

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Fernández, P., Fernández, S.O., Gonzalez, J.G.M., Fernández, T., Fernández, C.C., Fernández, S.P. (2018). Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 45. JIMD Reports, vol 45. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_141

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  • DOI: https://doi.org/10.1007/8904_2018_141

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-58646-4

  • Online ISBN: 978-3-662-58647-1

  • eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)

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