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Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort

20 Feb 2025

Abstract excerpt

BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by tubular atrophy, interstitial fibrosis, and progressive kidney dysfunction. Its causative genes include UMOD, MUC1, REN, HNF1B, and SEC61A1. ADTKD contributes to unexplained chronic kidney disease (CKD), and many cases remain genetically undiagnosed. This study aimed to elucidate the clinical features of patients...

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PMID: 39976632
DOI: 10.1007/s10157-025-02629-4

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