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Case Reports: Unusual presentation of more common disease/injury
Early renal failure in childhood in a male with Fabry disease
  1. Josephine Norre Hogh1,
  2. Hatim Ebrahim2,
  3. Shabbir Moochhala3 and
  4. Uma Ramaswami2
  1. 1University College London Medical School, University College London, London, UK
  2. 2Lysomal Disorders Unit, Royal Free London NHS Foundation Trust, London, UK
  3. 3UCL Department of Renal Medicine, Royal Free London NHS Foundation Trust, London, UK
  1. Correspondence to Dr Uma Ramaswami; uma.ramaswami{at}nhs.net

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of Fabry disease, typically presenting in the fifth decade of life, but is very rare in childhood. Here we present a case of an 11-year-old boy with classical Fabry disease presenting with ESRD requiring haemodialysis and transplant. Diagnosis was confirmed by renal biopsy, GLA mutation and low alpha-galactosidase A levels. He has an unusual genotype, hemizygous for the c.1000–11T>A intronic variant and positive for the pseudodeficiency allele D313Y. Due to the possibility of very early and accelerated disease progression, Fabry disease should be considered as a possible diagnosis in unexplained renal failure in males from a younger age.

  • Genetics
  • Renal medicine
  • Chronic renal failure
  • Renal transplantation

https://doi.org/10.1136/bcr-2021-246682

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    Footnotes

    • Contributors JNH wrote the first draft of the manuscript; UR conceived, led on content and format of the manuscript and guided the first author in writing the first draft. HE and SM critically reviewed the manuscript and provided data on renal and genetics.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.