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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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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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20.

OMIM.ORG article

Omim 162000 external link
Update: Aug. 14, 2020
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