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Purpose of Review <p>This review aims to summarize the common clinical presentations of renal tubular acidosis (RTA) in children and present a simplified, practical approach for differentiating between the various types of RTA. Emphasis is placed on the integration of genetic testing, particularly next-generation sequencing (NGS), to identify hereditary forms of RTA accurately.</p> Recent Findings <p> Recent advances underscore the value of combining genetic and biochemical testing in routine clinical practice. This article highlights key genetic variants commonly associated with RTA and reviews the role of NGS in diagnosis. Additionally, we examine long-term outcomes in pediatric RTA and review emerging treatment strategies, including Veverimer and ADV7103, which have shown enhanced metabolic control of acidosis.</p> Summary <p> We provide an up-to-date overview of the diagnostic and therapeutic advancements in RTA, with a focus on genetic insights and long-term management. This review emphasizes the importance of early identification and individualized treatment in mitigating the chronic effects of metabolic acidosis.</p>

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Evaluation for Renal Tubular Acidosis in the Pediatric Patient

  • 期刊论文

  • 发表日期：

    2026年2月5日

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  • Nisha S. Singh,
  • Shweta Shah,
  • Sai Sudha Mannemuddhu

摘要

Purpose of Review

This review aims to summarize the common clinical presentations of renal tubular acidosis (RTA) in children and present a simplified, practical approach for differentiating between the various types of RTA. Emphasis is placed on the integration of genetic testing, particularly next-generation sequencing (NGS), to identify hereditary forms of RTA accurately.

Recent Findings

Recent advances underscore the value of combining genetic and biochemical testing in routine clinical practice. This article highlights key genetic variants commonly associated with RTA and reviews the role of NGS in diagnosis. Additionally, we examine long-term outcomes in pediatric RTA and review emerging treatment strategies, including Veverimer and ADV7103, which have shown enhanced metabolic control of acidosis.

Summary

We provide an up-to-date overview of the diagnostic and therapeutic advancements in RTA, with a focus on genetic insights and long-term management. This review emphasizes the importance of early identification and individualized treatment in mitigating the chronic effects of metabolic acidosis.