A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy

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Machiko Oka1,2, Rikio Suzuki3, Takeshi Akasaka4,5

  • 1Kidney Disease and Transplant Center, Shonan Kamakura General Hospital, Kamakura, Kanagawa, Japan.

Kidney Medicine
|June 15, 2026
PubMed

Insights

This case study details a teen with nephrotic syndrome, diagnosed with Fabry disease, idiopathic multicentric Castleman disease (iMCD), and membranous nephropathy. Steroid therapy resolved proteinuria, suggesting immune involvement beyond Fabry disease.

Area of Science:

  • Nephrology
  • Genetics
  • Immunology

Background:

  • Fabry disease is an X-linked lysosomal storage disorder challenging to diagnose in females due to X-chromosome inactivation.
  • Nephrotic syndrome can manifest from various underlying conditions, including genetic disorders and immune-mediated diseases.
  • Idiopathic multicentric Castleman disease (iMCD) is a rare lymphoproliferative disorder associated with systemic inflammation.

Keywords:
Fabry diseaseglobotriaosylceramidemembranous nephropathymulticentric Castleman diseaseyoung female

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