About Familial Hyperuricemic Nephropathy

Familial Hyperuricemic Nephropathy, or Familial Nephropathy with Gout, is an Autosomal Dominant disorder in which hyperuricemia and gout are associated with early and progressive renal impairment. The disease usually occurs in childhood adolescence or in early adult life and renal failure usually appears between one’ 20 and 40 years old. People may often how the disease passes through families and what the treatment methods may include so as to improve the prognosis. The following will introduce more details about Familial Hyperuricemic Nephropathy.

Familial Hyperuricemic Nephropathy is considered a rare disease. The biochemical hallmark of the disease is hyperuricemia due to grossly reduced fractional urate clearance. As what’s mentioned, Familial Juvenile Hyperuricemic Nephropathy is an Autosomal Dominant disorder. The location of the gene in the disorder has been determined on chromosome 16p12 close to the MCKD2 locus(responsible for Autosomal dominant medullary cystic kidney disease).

Actually, the disorder was first reported over 40 years ago by Duncan and Dixon, who described a well-documented pedigree of familial hyperuricemia, gout and kidney disease. The patient was a 19-year-old man with acute gouty arthritis who had hyperuricemia, hypertension and severe renal failure associated to bilateral small kidneys. All of his first-degree relatives had hyperuricemia, and 5 of them have kidney failure. Since then, numerous reports have reported on this kind of kidney disorder. The patient usually presenting gout or hyperuricemia, at an early age, associated with progressive renal failure over a few or several years. Hyperuricemia usually precedes the onset of overt renal disease for many years; no cause and effect relationship between hyperuricemia and renal failure has been demonstrated unequivocally.

Clinical diagnosis of Familial Hyperuricemic Nephropathy should include primary gout, genetic disorders of purine metabolism, and Autosomal Dominant medullary cystic kidney associated with hyperuricemia and gout. Treatment of family members with familial hyperuricemic nephropathy usually includes therapy with uric acid as well as good control of blood pressure. However, although therapy with uric acid-lowering drugs may be appropriate for stabilizing the illness condition and preventing arthritis in some cases, renal function has continued to deteriorate in the rest despite maintenance of normal uricemia. Early effective preventive and treatment measures to stop hyperuricemia from damaging the kidneys would help to improve prognosis in those with Familial Hyperuricemia Nephropathy.