UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: A pediatric case report and literature review

Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD gene mutation (ADTKD-UMOD) is rare in children, characterized by hyperuricemia, gout, and progressive chronic kidney disease. It usually leads to end-stage renal failure at fiftieth decades.