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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.

Coryell ME et al. (1964) A familial study of a human enzyme defect, argininosuccinic aciduria.

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2.

Krams M et al. (1999) Kallmann's syndrome: mirror movements associated with bilateral corticospinal tract hypertrophy.

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3.

Peskind ER et al. (2006) Age and apolipoprotein E*4 allele effects on cerebrospinal fluid beta-amyloid 42 in adults with normal cognition.

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4.

Christensen K et al. (2006) The quest for genetic determinants of human longevity: challenges and insights.

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5.

Baird PN et al. (2006) Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD).

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6.

Cathelineau L et al. (1981) Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.

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7.

Böhles H et al. (1978) Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.

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8.

Qureshi IA et al. (1978) Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria.

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9.

Moser HW et al. (1967) Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia.

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10.

None (1967) Arginosuccine aciduria.

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11.

Caron KM et al. (2004) Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene.

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12.

Lewis PD et al. (1970) Argininosuccinic aciduria. Case report with neuropathological findings.

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13.

Fleisher LD et al. (1979) Argininosuccinic aciduria: prenatal studies in a family at risk.

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14.

Goodman SI et al. (1973) Antenatal diagnosis of argininosuccinic aciduria.

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15.

Kint J et al. (1968) Deficient argininosuccinase activity in brain in argininosuccinicaciduria.

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16.

Fukuoka S et al. (1997) Assignment of the Tamm-Horsfall protein/uromodulin gene (Umod) to mouse chromosome bands 7F1-F2 and rat chromosome bands 1q36-->q37 by in situ hybridization.

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17.

Jeanpierre C et al. (1993) Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11.

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18.

Pook MA et al. (1993) Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.

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19.

Pennica D et al. (1987) Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein.

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20.

Bisceglia M et al. (2006) Renal cystic diseases: a review.

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Update: Aug. 14, 2020
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