Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperuricemic nephropathy, familial juvenile 1

Familial juvenile hyperuricemic nephropathy 1 is an autosomal dominant disorder caused by mutations of the UMOD gene. The predominant clinical feature is hyperuricemia; which accounts for gout and nephropathy with progressive renal failure.

Diagnosis

The patients usually resents with gout or progressive renal failure. Often there is a striking family history of such disorders. The clinical diagnosis can be made based on laboratory findings of hyperuricemia and reduced fractional clearance of uric acid. The diagnosis can be proved by molecular genetic methods. Molecular genetic diagnosis and fractional clearance of uric acid are the only methods practicable to identify asymptomatic family members.

Management

The progression of renal can be significantly reduced by allupurinol. Early therapy is mandatory.

Systematic

Hyperuricemic nephropathy
Hyperuricemic nephropathy, familial juvenile 1
UMOD
Hyperuricemic nephropathy, familial juvenile 2

References:

1.

Stibůrková B et. al. (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

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2.

Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

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3.

Turner JJ et. al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

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4.

Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

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5.

Vylet'al P et. al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

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6.

McBride MB et. al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.

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7.

Cameron JS et. al. (1990) Precocious familial gout.

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8.

Van Goor W et. al. (1971) An unusual form of renal disease associated with gout and hypertension.

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9.

Leumann EP et. al. (1983) Familial nephropathy with hyperuricemia and gout.

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10.

Massari PU et. al. (1980) Familial hyperuricemia and renal disease.

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11.

Simmonds HA et. al. (1980) Familial gout and renal failure in young women.

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12.

Saeki A et. al. (1995) Newly discovered familial juvenile gouty nephropathy in a Japanese family.

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13.

McBride MB et. al. (1997) Familial renal disease or familial juvenile hyperuricaemic nephropathy?

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14.

Kamatani N et. al. (2000) Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.

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15.

Stacey JM et. al. (2003) Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.

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16.

DUNCAN H et. al. (1960) Gout, familial hypericaemia, and renal disease.

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17.

Moro F et. al. (1991) Does allopurinol affect the progression of familial juvenile gouty nephropathy?

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18.

Yokota N et. al. (1991) Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family.

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19.

Moro F et. al. (1991) Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease.

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Update: Sept. 26, 2018