Clinical feature: 

Definition: 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.

Diagnostics: 

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.

Differential: Type 2 hyperuricemic nephropathy is characterized by early onset of anemia.  » » » 

Literature: 

Cameron JS et al. (1990) Precocious familial gout.
DUNCAN H et al. (1960) Gout, familial hypericaemia, and renal disease.
DUNCAN H et al. (1960) Gout, familial hypericaemia, and renal disease.
Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
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.
Leumann EP et al. (1983) Familial nephropathy with hyperuricemia and gout.
Massari PU et al. (1980) Familial hyperuricemia and renal disease.
McBride MB et al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.
McBride MB et al. (1997) Familial renal disease or familial juvenile hyperuricaemic nephropathy?
Moro F et al. (1991) Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease.
Moro F et al. (1991) Does allopurinol affect the progression of familial juvenile gouty nephropathy?
Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Saeki A et al. (1995) Newly discovered familial juvenile gouty nephropathy in a Japanese family.
Simmonds HA et al. (1980) Familial gout and renal failure in young women.
Stacey JM et al. (2003) Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
Stiburkova 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.
Stiburkova 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.
Turner JJ et al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Van Goor W et al. (1971) An unusual form of renal disease associated with gout and hypertension.
Vylet'al P et al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Yokota N et al. (1991) Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family.