/familial juvenile hyperuricemic nephropathy type 2

familial juvenile hyperuricemic nephropathy type 2

Rare Disease

MONDO:0013128

Also Known As

ADTKD-RENFJHN type 2REN familial juvenile hyperuricemic nephropathyREN-associated FJHNREN-associated familial juvenile hyperuricemic nephropathyREN-associated kidney diseaseautosomal dominant tubulointerstitial kidney disease due to mutations in RENfamilial juvenile hyperuricemic nephropathy caused by mutation in RENfamilial juvenile hyperuricemic nephropathy type 2hyperuricemic nephropathy, familial juvenile, type 2tubulointerstitial kidney disease, autosomal dominant, 4HNFJ2REN-related autosomal dominant tubulointerstitial kidney diseaseearly-onset hyperuricemia, Anemia, and progressive kidney failurehyperuricemic nephropathy, familial juvenile, 2

Definition

Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).