Familial juvenile hyperuricemic nephropathy type 2
Familial juvenile hyperuricemic nephropathy type 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).
Also known as ADTKD-REN, autosomal dominant tubulointerstitial kidney disease due to mutations in REN, familial juvenile hyperuricemic nephropathy caused by mutation in REN, familial juvenile hyperuricemic nephropathy type 2, FJHN type 2, hyperuricemic nephropathy, familial juvenile, type 2, REN familial juvenile hyperuricemic nephropathy, REN-associated familial juvenile hyperuricemic nephropathy, REN-associated FJHN, REN-associated kidney disease, tubulointerstitial kidney disease, autosomal dominant, 4 — per MONDO