The authors present the description of a family comprising father (his mother had died middle-aged from renal failure) and his two children aged 15 and 17 years who developed is young age (already in the second decade) gouty arthritis and primary interstitial nephritis. Based on the laboratory finding of hyperuricaemia with disproportionately low urate excretion and excretion of excessive uric acid formation, an enzyme defect and other renal disease the authors diagnosed familial gouty juvenile nephropathy. This diagnosis was confirmed also by histological examination of renal biopsy in the youngest member of the family. It is a disease which belongs into the group of hereditary types of nephritis. In the literature worldwide some nine families were described, in the Czech Republic it is the first description of this condition.

Centrum dĕdicných metabolických poruch Praha

Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity