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Familial juvenile hyperuricemic nephropathy type 2

rare

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).

Identifiers
MONDO:0013128 OMIM:613092Orphanet:217330
Causal genes
REN
Part of
Familial juvenile hyperuricemic nephropathyInherited renal tubular disease
Also known as
ADTKD-REN · autosomal dominant tubulointerstitial kidney disease due to mutations in REN · familial juvenile hyperuricemic nephropathy caused by mutation in REN · FJHN type 2 · HNFJ2

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