Autosomal dominant tubulointerstitial kidney disease in Chinese patients

This study establishes the first ADTKD cohort in China, revealing distinctive genetic and clinical features, including a high prevalence of UMOD and HNF1B variants. Urine and plasma uromodulin proved to be reliable biomarkers for diagnosing and monitoring ADTKD-UMOD. Incorporating uromodulin testing into clinical practice may improve early diagnosis and management of ADTKD and related kidney diseases.