Biomarkers in Autosomal Dominant Tubulointerstitial Kidney Disease

Abstract

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is increasingly recognized as a significant contributor to chronic kidney disease (CKD), attributed to mutations in at least five genes: UMOD, MUC1, HNF1B, REN, and SEC61A1 . ADTKD typically presents as slowly progressive CKD with variable clinical features such as hyperuricemia and tubular proteinuria, complicating its diagnosis. The disease is often undiagnosed until advanced stages due to its insidious onset and nonspecific clinical indicators. This review synthesizes current knowledge on the clinical manifestations, pathological features, and emerging biomarkers of ADTKD, emphasizing the complexity and heterogeneity of the disease. Treatment options are limited, most current approaches focus on controlling blood pressure, uric acid levels, and anemia to delay kidney failure, with uncertain efficacy in slowing disease progression. Integrative strategies, including traditional Chinese medicine (TCM), have shown promise in mitigating core pathological processes such as renal interstitial fibrosis and may offer a complementary avenue to improve patient outcomes. Effective biomarkers remain crucial for early diagnosis and personalized interventions, and future integration of genomics, proteomics, and metabolomics is warranted to reveal the biological networks and molecular mechanisms of ADTKD, identifying new biomarkers and potential therapeutic targets.