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

The present case documents a 17-year-old woman patient with nephrotic syndrome who was diagnosed with Fabry disease complicated by idiopathic multicentric Castleman disease (iMCD) and membranous nephropathy. Fabry disease, an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, presents diagnostic challenges in females owing to random X-chromosome inactivation. The presence of zebra bodies in the podocytes, as well as a genetic test, confirmed the diagnosis of Fabry disease, alongside immune complex deposits, which were indicative of membranous nephropathy. In addition, the presence of multiple lymphadenopathies and elevated serum inflammatory marker levels led to the diagnosis of iMCD. Notably, the proteinuria and inflammation rapidly resolved with steroid therapy, suggesting an immune-mediated injury distinct from Fabry-related podocytopathy. This unique case of Fabry disease coexisting with iMCD and membranous nephropathy raises intriguing questions regarding the potential interplay between globotriaosylceramide (Gb3)-induced inflammation and immune dysregulation.