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

BMC Nephrology

Masataka Kuwana²  Tomohiro Ishii³  Konosuke Konishi⁴  Akinori Hashiguchi¹  Hironari Hanaoka² 

[1] Department of Pathology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan;Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan;Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan;Division of Endocrinology, Metabolism and Nephrology, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan

关键词: Granulomatosis with polyangiitis;    Fabry’s disease;    Enzyme replacement therapy;    Crescentic glomerulonephritis;   

Others  :  1082605
DOI  :  10.1186/1471-2369-15-157

 received in 2014-06-11, accepted in 2014-09-23,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Hanaoka et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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