title: Renal amyloidosis in recessive dystrophic epidermolysis bullosa.
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics Juntendo University School of Medicine, Tokyo, Japan. kkaneko@med.juntendo.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Kaneko
authors.forename: M
authors.initials: M
authors.lastname: Kakuta
authors.forename: Y
authors.initials: Y
authors.lastname: Ohtomo
authors.forename: T
authors.initials: T
authors.lastname: Shimizu
authors.forename: Y
authors.initials: Y
authors.lastname: Yamashiro
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
authors.forename: M
authors.initials: M
authors.lastname: Manabe
mesh_terms: D000293:Adolescent; D000328:Adult; D000686:Amyloidosis / Q000150:complications / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000097:blood; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000150:complications / Q000473:pathology*; D008297:Male; D000685:Serum Amyloid A Protein / Q000378:metabolism; D016482:Urinalysis
chemical_list: D000685:Serum Amyloid A Protein; D003404:Creatinine