Background: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder characterized by early onset of hyperuricemia, decreased fractional renal urate excretion and progressi
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonl
One additional deletion mutation was detected in a Cypriot of Romanian origin.Summary of pathogenic COL4A3/A4 mutations found in Greek-Cypriot families studied here.