Alport syndrome is a genetic kidney disease characterized by hematuria, progressive kidney failure, hearing loss, ocular abnormalities, and a lamellated glomerular basement membrane (Gubler et al. 1981). The ocular abnormalities most often include a fleck retinopathy and lenticonus. Alport syndrome was first described by Cecil Alport at Guy’s Hospital in London when he reported a family with renal failure and hearing loss (Alport 1927).

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Alport Syndrome

  • Judy Savige

摘要

Alport syndrome is a genetic kidney disease characterized by hematuria, progressive kidney failure, hearing loss, ocular abnormalities, and a lamellated glomerular basement membrane (Gubler et al. 1981). The ocular abnormalities most often include a fleck retinopathy and lenticonus. Alport syndrome was first described by Cecil Alport at Guy’s Hospital in London when he reported a family with renal failure and hearing loss (Alport 1927).