Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Two cases of Familial Juvenile Hyperuricemic Nephropathy

Familial Juvenile Hyperuricemic Nephropathy 2례

  • Park Jin-Ho (Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine) ;
  • Choi Bo-Hwa (Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine) ;
  • Lee So-Young (Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine) ;
  • Yoo Eun-Sil (Department of Diagnostic Pathology, Asan Medical Center, University of Ulsan, College of Medicine) ;
  • Park Young-Seo (Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine)
  • 박진호 (울산의대 서울중앙병원 소아과) ;
  • 최보화 (울산의대 서울중앙병원 소아과) ;
  • 이소영 (울산의대 서울중앙병원 소아과) ;
  • 유은실 (울산의대 서울중앙병원 진단병리과) ;
  • 박영서 (울산의대 서울중앙병원 소아과)
  • Published : 1997.10.01
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Abstract

Familial juvenile hyperuricemic nephropathy is an autosomal dominant disease characterized by progressive renal disease and hyperuricemia or gout, affecting young people of either sex equally. There are two biochemical markers of this disorder. The first is hyperuricemia disproportionate to the degree of renal dysfunction; the second is a grossly reduced clearance of uric acid relative to creatinine, dispropotionate to age, sex and degree of renal failure. We experienced 2 family members with hyperuricemia. One family member, a 13-year-old girl who had suffered from tophaceous gout and chronic renal failure. Her younger brother also had hyperuricemia and moderately reduced renal function. Their urinary excretion fractions of uric acid($FE_{uric\;acid}$) were reduced and renal biopsy specimens showed interstitial fibrosis with tubular atrophy and interstitial urate crystal deposition. We have treated these two patients with allopurinol but we have done renal transplantation because she progressed to end stage renal disease at 16 year old age.

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