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<p>ADTKD-UMOD (Autosomal Dominant Tubulointerstitial Kidney Disease - Uromodulin) is a hereditary kidney disease caused by mutations in the <i>UMOD</i> gene, primarily characterized by renal dysfunction and related symptoms. This review aims to explore the clinical characteristics and molecular mechanisms associated with ADTKD-UMOD, highlighting the importance of understanding this condition for improved patient management. We will analyze the latest findings in the field of ADTKD-UMOD research, addressing its etiology, pathogenesis, clinical manifestations, and potential therapeutic strategies. Current research has identified various genetic mutations and their implications, yet challenges remain in fully elucidating the precise mechanisms by which these mutations lead to renal impairment. By synthesizing existing literature and addressing gaps in knowledge, this review seeks to enhance understanding of ADTKD-UMOD and promote effective clinical approaches to management and treatment.</p>

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Autosomal dominant tubulointerstitial kidney disease-UMOD: a short review

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年8月6日

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  • Panpan Qiao,
  • Zhaohui Wang,
  • Jingyuan Xie

摘要

ADTKD-UMOD (Autosomal Dominant Tubulointerstitial Kidney Disease - Uromodulin) is a hereditary kidney disease caused by mutations in the UMOD gene, primarily characterized by renal dysfunction and related symptoms. This review aims to explore the clinical characteristics and molecular mechanisms associated with ADTKD-UMOD, highlighting the importance of understanding this condition for improved patient management. We will analyze the latest findings in the field of ADTKD-UMOD research, addressing its etiology, pathogenesis, clinical manifestations, and potential therapeutic strategies. Current research has identified various genetic mutations and their implications, yet challenges remain in fully elucidating the precise mechanisms by which these mutations lead to renal impairment. By synthesizing existing literature and addressing gaps in knowledge, this review seeks to enhance understanding of ADTKD-UMOD and promote effective clinical approaches to management and treatment.