title: A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. hhanaoka@a3.keio.jp.
authors.forename: Hironari
authors.initials: H
authors.lastname: Hanaoka
authors.forename: Akinori
authors.initials: A
authors.lastname: Hashiguchi
authors.forename: Konosuke
authors.initials: K
authors.lastname: Konishi
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Ishii
authors.forename: Masataka
authors.initials: M
authors.lastname: Kuwana
mesh_terms: D000328:Adult; D056648:Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / Q000175:diagnosis / Q000209:etiology; D019268:Antibodies, Antineutrophil Cytoplasmic / Q000032:analysis; D001379:Azathioprine / Q000627:therapeutic use; D003520:Cyclophosphamide / Q000008:administration & dosage / Q000627:therapeutic use; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005921:Glomerulonephritis / Q000175:diagnosis / Q000209:etiology / Q000276:immunology / Q000652:urine; D014890:Granulomatosis with Polyangiitis / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D007668:Kidney / Q000473:pathology; D007962:Leukocytes / Q000201:enzymology; D008168:Lung / Q000473:pathology; D008297:Male; D015523:Maxillary Sinusitis / Q000209:etiology; D011239:Prednisolone / Q000008:administration & dosage / Q000627:therapeutic use; D011507:Proteinuria / Q000209:etiology; D011994:Recombinant Proteins / Q000627:therapeutic use; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics / Q000627:therapeutic use
chemical_list: D019268:Antibodies, Antineutrophil Cytoplasmic; D007527:Isoenzymes; D011994:Recombinant Proteins; D003520:Cyclophosphamide; D011239:Prednisolone; D000519:alpha-Galactosidase; D001379:Azathioprine