Diagnostic Aspects of Familial Juvenile Hyperuriceamic Nephropathy
1Stibůrková B., 1,2Šebesta I., 1,3Kmoch S.
1Ústav dědičných metabolických poruch 1. LF UK, Praha 2Ústav klinické biochemie a laboratorní diagnostiky 1. LF UK, Praha 3Centrum aplikované genomiky, Praha
Background. Familial juvenile hyperuricemic nephropathy (FJHN) is a genetic disorder with the autosomal
dominant mode of hereditability; characterized with hyperuricemia, gout and progressive renal disease.
Characterization of the disease together with clinical and biochemical findings in patients of Czech population is
Methods and Results. The bloodlines of three Czech families with FJHN were set up on the basis of their family
history. The specimens of blood and urine were taken from 57 family members for biochemical investigations and
isolations of genomic DNA. Blood and urinary concentrations of the uric acid and creatinine together with values of
excretion fraction of uric acid and Kaufman’s index were determined. Based on these results diagnosis of FJHN was
established or confirmed in 19 patients. One additional patient was diagnosed on the results of linkage analysis.
Conclusions. FJHN is a disorder sharing non-specific clinical and biochemical signs with the group of familial renal
disorders. The effective diagnosis is difficult due to the heterogeneity of the disorder and limited availability of
molecular genetic analysis. Detailed purine metabolic investigation together with precise family history is thus
necessary and very important in family members with hyperuricemia and/or gout (particularly in childhood or young
women) as well as in patients with familial renal disease.
familial juvenile hyperuricemic nephropathy, hyperuricemia, gout, renal failure, excretion fraction of
uric acid, uromodulin.