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Kaneko, K. et al.

Kaneko, Kakuta, Ohtomo, Shimizu, Yamashiro, Ogawa, Manabe,

Renal amyloidosis in recessive dystrophic epidermolysis bullosa.

BACKGROUND: Although it is known that renal amyloidosis may complicate several dermatoses, recessive dystrophic epidermolysis bullosa (RDEB) complicated by nephropathy has been thought to be rare. We, however, had seen a young adult with RDEB who died of renal failure due to systemic amyloidosis. OBJECTIVE: A retrospective study was performed in order to investigate the incidence and etiology of renal amyloidosis in RDEB. METHODS: Routine urinalysis, serum amyloid A protein ( SAA) and creatinine levels were repeatedly determined in 11 patients with RDEB (mean age 17.7 years, range 5-28, 7 males, 4 females). Nephropathy was defined as the presence of both proteinuria and hematuria with red blood cell casts. RESULTS: Seven out of 9 generalized RDEB patients had nephropathy including 3 cases with end-stage renal disease (2 died within 2 years from the onset of nephropathy), while 2 patients with localized RDEB did not. Levels of SAA were significantly higher in patients with nephropathy than those in patients without nephropathy (p<0.05). CONCLUSION: Nephropathy is a common and serious complication of RDEB. Renal amyloidosis may play an important role in its etiology. We recommend that patients with RDEB should be periodically screened for nephropathy due to amyloidosis by urinalysis and measuring SAA levels.[1]

References

Renal amyloidosis in recessive dystrophic epidermolysis bullosa. Kaneko, K., Kakuta, M., Ohtomo, Y., Shimizu, T., Yamashiro, Y., Ogawa, H., Manabe, M. Dermatology (Basel) (2000) [Pubmed]

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