Abstract:Background: Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by a pathogenic variant in UMOD (ADTKD-UMOD) is a rare group of diseases characterized by hyperuricaemia with decreased urinary excretion of urate, gout and progressive chronic kidney disease. The mundane clinical characteristics often result in a failure to diagnose ADTKD-UMOD. Case presentation: In this report, we describe a 12-year-old boy who presented with polyarthritis, hyperuricaemia and tophi with a family history of 8 affe… Show more
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