Conditions / Urinary

familial juvenile hyperuricemic nephropathy 3

info ยท Urinary

An autosomal dominant tubulointerstitial kidney disease characterized by high serum uric acid and chronic renal failure with autosomal dominant inheritance that has_material_basis_in linkage to a 5.5 Mb region on chromosome 2p22.1-p21 between SNPs rs372139 and

An autosomal dominant tubulointerstitial kidney disease characterized by high serum uric acid and chronic renal failure with autosomal dominant inheritance that has_material_basis_in linkage to a 5.5 Mb region on chromosome 2p22.1-p21 between SNPs rs372139 and rs896986.

Signs and symptoms

  • Abnormal renal interstitial morphology
  • Renal insufficiency
  • Impaired renal concentrating ability
  • Hyperuricemia

Also known as: HNFJ3