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Introduction <p>Distal renal tubular acidosis (dRTA) is characterized by impaired acidification in the distal tubules and may be associated with genetic factors, such as <i>ATP6V0A4</i> variants. The role of clozapine in triggering dRTA, particularly in individuals with underlying genetic susceptibility, remains poorly understood.</p> Case presentation <p>A 24-year-old woman with schizophrenia developed dRTA following the reintroduction of clozapine; a previous episode had resolved after discontinuation of the drug. Investigations confirmed impaired urinary acidification consistent with dRTA. Genetic testing identified a heterozygous <i>ATP6V0A4</i> variant (c.1029 + 5G &gt; A). She responded well to sodium bicarbonate therapy, which enabled the continuation of clozapine treatment.</p> Conclusion <p>This case highlights a potential gene–drug interaction, in which an <i>ATP6V0A4</i> variant predisposed the patient to clozapine-induced dRTA. Recognizing genetic susceptibility is essential when dRTA arises in the context of medications not typically associated with the condition, to inform both diagnosis and management.</p>

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Distal renal tubular acidosis triggered by clozapine in a patient with a heterozygous ATP6V0A4 c.1029 + 5G > A variant: a case report and literature review

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  • 发表日期：

    2025年10月29日

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  • Takuya Kumagai,
  • Ayano Saito,
  • Shihori Ino,
  • Kazuhisa Yoshizawa,
  • Masahiro Takeshima,
  • Naoto Takahashi

摘要

Introduction

Distal renal tubular acidosis (dRTA) is characterized by impaired acidification in the distal tubules and may be associated with genetic factors, such as ATP6V0A4 variants. The role of clozapine in triggering dRTA, particularly in individuals with underlying genetic susceptibility, remains poorly understood.

Case presentation

A 24-year-old woman with schizophrenia developed dRTA following the reintroduction of clozapine; a previous episode had resolved after discontinuation of the drug. Investigations confirmed impaired urinary acidification consistent with dRTA. Genetic testing identified a heterozygous ATP6V0A4 variant (c.1029 + 5G > A). She responded well to sodium bicarbonate therapy, which enabled the continuation of clozapine treatment.

Conclusion

This case highlights a potential gene–drug interaction, in which an ATP6V0A4 variant predisposed the patient to clozapine-induced dRTA. Recognizing genetic susceptibility is essential when dRTA arises in the context of medications not typically associated with the condition, to inform both diagnosis and management.