Renal amyloidosis in recessive dystrophic epidermolysis bullosa

Background: Although it is known that renal amyloidosis may complicate seve ral dermatoses, recessive dystrophic epidermolysis bullosa (RDEB) complicat ed by nephropathy has been thought to be rare. We, however, had seen a youn g adult with RDEB who died of renal failure due to systemic amyloidosis. Ob jective: A retrospective study was performed in order to investigate the in cidence and etiology of renal amyloidosis in RDEB. Methods: Routine urinaly sis, serum amyloid A protein (SAA) and creatinine levels were repeatedly de termined 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 a nd hematuria with red blood cell casts. Results: Seven out of 9 generalized RDEB patients had nephropathy including 3 cases with end-stage renal disea se (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 pat ients with nephropathy than those in patients without nephropathy (p < 0.05 ). Conclusion: Nephropathy is a common and serious complication of RDEB. Re nal amyloidosis may play an important role in its etiology. We recommend th at patients with RDEB should be periodically screened for nephropathy due t o amyloidosis by urinalysis and measuring SAA levels. Copyright (C) 2000 S. Karger AG. Basel.