A rare association between Fabry’s disease and granulomatosis with polyangiitis: a potential pathogenic linkReport as inadecuate

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BMC Nephrology

, 15:157

Clinical Research


BackgroundFabry’s disease is a rare X-linked, hereditary lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A. Granulomatosis with polyangiitis is characterized by the involvement of the respiratory tract and kidneys. Here, we report the first case of the coexistence of these diseases.

Case presentationWe describe a 29-year-old man suffering from fever with maxillary sinusitis, multiple lung nodules, and proteinuria. He was diagnosed with Fabry’s disease accompanying granulomatosis with polyangiitis on the basis of the low activity of peripheral leukocyte α-galactosidase A and pathological findings in the lung and kidney. Glucocorticoid and cyclophosphamide were administered, followed by enzyme replacement therapy. Progression to end-stage renal disease has not been observed for 6 years until the time of drafting this manuscript.

ConclusionBecause both Fabry’s disease and granulomatosis with polyangiitis or crescentic glomerulonephritis are rare diseases, their concurrence in this and related cases suggests there may be a pathogenic link between these two conditions. Fabry’s disease may be underdiagnosed, particularly in cases of granulomatosis with polyangiitis or crescentic glomerulonephritis.

KeywordsCrescentic glomerulonephritis Enzyme replacement therapy Fabry’s disease Granulomatosis with polyangiitis AbbreviationsαGL-Aα-galactosidase A

ANCAAntineutrophil cytoplasmic antibody

CRPC-reactive protein

CTComputed tomography


GPAGranulomatosis with polyangiitis

PR3Proteinase 3


Electronic supplementary materialThe online version of this article doi:10.1186-1471-2369-15-157 contains supplementary material, which is available to authorized users.

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Author: Hironari Hanaoka - Akinori Hashiguchi - Konosuke Konishi - Tomohiro Ishii - Masataka Kuwana

Source: https://link.springer.com/

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