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.
Background: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder characterized by early onset of hyperuricemia, decreased fractional renal urate excretion and progressi