An autosomal dominant disorder characterized by hyperuricemia due to a low fractional excretion of URIC ACID, defective urinary concentrating ability, interstitial nephropathy, and progression to CHRONIC KIDNEY FAILURE. Both HNFJ1 and medullary cystic kidney disease (MCKD2) (OMIM: 603860) are caused by mutations in the UMOD gene. OMIM: 162000
Also Known As:
Familial Gout-Kidney Disease; Familial Gouty Nephropathy; Familial Juvenile Hyperuricemic Nephropathy; Gouty nephropathy, familial juvenile; HNFJ; HNFJ1; Hyperuricemic Nephropathy, Familial Juvenile; Hyperuricemic Nephropathy, Familial Juvenile 1; Mckd2; Medullary Cystic Kidney Disease Type 2; Nephropathy, familial, with gout; Umod-Related Kidney Disease; Uromodulin Storage Disease; Uromodulin-Associated Kidney Disease