Kaneko K, Kakuta M, Ohtomo Y, Shimizu T, Yamashiro Y, Ogawa H, Manabe M
Department of Pediatrics Juntendo University School of Medicine, Tokyo, Japan.
Dermatology. 2000;200(3):209-12. doi: 10.1159/000018384.
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.
A retrospective study was performed in order to investigate the incidence and etiology of renal amyloidosis in RDEB.
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.
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).
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.
虽然已知肾淀粉样变性可能并发多种皮肤病，但隐性营养不良性大疱性表皮松解症（RDEB）并发肾病一直被认为很罕见。然而，我们曾见过一名患有RDEB的年轻成年人，他因系统性淀粉样变性死于肾衰竭。
进行一项回顾性研究，以调查RDEB中肾淀粉样变性的发病率和病因。
对11例RDEB患者（平均年龄17.7岁，范围5 - 28岁，7例男性，4例女性）反复进行常规尿液分析、血清淀粉样蛋白A（SAA）和肌酐水平测定。肾病定义为同时存在蛋白尿、血尿和红细胞管型。
9例泛发型RDEB患者中有7例患有肾病，其中3例为终末期肾病（2例在肾病发作后2年内死亡），而2例局限性RDEB患者未患肾病。肾病患者的SAA水平显著高于无肾病患者（p<0.05）。
肾病是RDEB常见且严重的并发症。肾淀粉样变性可能在其病因中起重要作用。我们建议应对RDEB患者定期进行尿液分析和检测SAA水平，以筛查是否存在淀粉样变性所致的肾病。
