A rare association between Fabry's disease and granulomatosis with polyangiitis

A potential pathogenic link

Hironari Hanaoka, Akinori Hashiguchi, Konosuke Konishi, Tomohiro Ishii, Masataka Kuwana

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Background: Fabry'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 presentation. We 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.

Conclusion: Because 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.

Original languageEnglish
Article number157
JournalBMC Nephrology
Volume15
Issue number1
DOIs
Publication statusPublished - 2014 Oct 1

Fingerprint

Fabry Disease
Granulomatosis with Polyangiitis
Galactosidases
Glomerulonephritis
Maxillary Sinusitis
Lysosomal Storage Diseases
Enzyme Replacement Therapy
Kidney
Lung
Rare Diseases
Proteinuria
Respiratory System
Cyclophosphamide
Glucocorticoids
Chronic Kidney Failure
Leukocytes
Fever
Enzymes

Keywords

  • Crescentic glomerulonephritis
  • Enzyme replacement therapy
  • Fabry's disease
  • Granulomatosis with polyangiitis

ASJC Scopus subject areas

  • Nephrology
  • Medicine(all)

Cite this

A rare association between Fabry's disease and granulomatosis with polyangiitis : A potential pathogenic link. / Hanaoka, Hironari; Hashiguchi, Akinori; Konishi, Konosuke; Ishii, Tomohiro; Kuwana, Masataka.

In: BMC Nephrology, Vol. 15, No. 1, 157, 01.10.2014.

Research output: Contribution to journalArticle

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