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Fabry Disease pp 353–364Cite as

Fabry Disease in Pediatric Patients

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Abstract

Fabry disease, α-galactosidase A (α-Gal A) deficiency, is an X-linked lysosomal storage disease resulting in the progressive accumulation of globotriaosylceramide (GL-3) in the lysosomes of endothelial cells, as well as epithelial, perithelial and smooth muscle cells throughout the body. Classically affected males (<1% α-Gal A activity) present in childhood with acroparesthesias, hypohidrosis, angiokeratomas, corneal/lenticular opacities, and abdominal pain. With advancing age, renal failure and cerebrovascular and cardiovascular complications lead to early demise. Manifestations of disease in heterozygotes for the classic phenotype are variable due to Lyonization [1–7, 8]. In children and adolescence unusual signs and symptoms, and/or clusters of relatively common signs and symptoms should direct the physicians toward further investigations. In such cases, additional clinical signs of disease and a detailed family history can be helpful. Eventually, definitive diagnosis is relatively simple through enzyme activity assay, and DNA testing [5, 9, 10]. Here we focus on clinical presentation in pediatric and adolescent age groups. We will discuss the signs and symptoms unique in Fabry disease, as well as clusters of common signs and symptoms, which are suggestive of Fabry disease in this age group.

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Author information

Authors and Affiliations

  1. Columbia University School of Medicine, New York, NY, USA

    Maryam Banikazemi

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  1. Maryam Banikazemi
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Correspondence to Maryam Banikazemi .

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Editors and Affiliations

  1. , Shaare Zedek Medical Center, Gaucher Clinic, Bayit Street 12, Jerusalem, 91034, Israel

    Deborah Elstein

  2. , Shaare Zedek Medical Center, Genetics Unit, Bayit Street 12, Jerusalem, 91031, Israel

    Gheona Altarescu

  3. University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, 55131, Germany

    Michael Beck

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Banikazemi, M. (2010). Fabry Disease in Pediatric Patients. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_22

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  • DOI: https://doi.org/10.1007/978-90-481-9033-1_22

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  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-90-481-9032-4

  • Online ISBN: 978-90-481-9033-1

  • eBook Packages: MedicineMedicine (R0)

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