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Background <p><i>ATP7B </i>mutations classically lead to Wilson’s disease, characterized by hepatic and neurological involvement due to systemic copper overload. However, renal-limited phenotypes are extremely rare, easily overlooked and clinically diverse. Here, we report a woman carrying a heterozygous <i>ATP7B</i> variant who presented with isolated salt-wasting syndrome, marked renal copper deposition.</p> Case presentation <p>We report a 30-year-old Chinese woman with renal salt-wasting syndrome and chronic kidney disease, without hepatic, neurological, or ophthalmologic abnormalities. Laboratory tests, including ceruloplasmin (0.20&#xa0;g/L), 24-h urinary copper (20.8&#xa0;µg/24&#xa0;h), and liver function were within normal or borderline ranges, not fulfilling Wilson’s disease diagnostic criteria (Leipzig score &lt; 4). Renal biopsy revealed marked copper accumulation within tubular epithelial cells, and immunohistochemistry showed reduced <i>ATP7B</i> expression. Whole-exome sequencing identified a heterozygous <i>ATP7B</i> mutation (c.2621&#xa0;C &gt; T, p.Ala874Val). Given the absence of systemic copper overload, the patient was treated with corticosteroids and electrolyte replacement rather than copper-chelating agents, leading to partial clinical improvement.</p> Conclusion <p>This case suggests a possible renal-limited phenotype in an <i>ATP7B</i> carrier, underscoring the importance of integrating genetic testing and histopathology in unexplained tubulointerstitial nephritis. Long-term follow-up is essential to monitor for potential systemic manifestations.</p>

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Renal salt-wasting syndrome with tubular copper deposition in a heterozygous ATP7B carrier: a case report

  • 期刊论文

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  • 发表日期：

    2026年4月28日

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  • Lin Lin,
  • Jian Zhang,
  • Qiwen Xie,
  • Caifeng Li,
  • Shi Jin,
  • Xiaoqiang Ding,
  • Jie Teng,
  • Jialin Wang

摘要

Background

ATP7B mutations classically lead to Wilson’s disease, characterized by hepatic and neurological involvement due to systemic copper overload. However, renal-limited phenotypes are extremely rare, easily overlooked and clinically diverse. Here, we report a woman carrying a heterozygous ATP7B variant who presented with isolated salt-wasting syndrome, marked renal copper deposition.

Case presentation

We report a 30-year-old Chinese woman with renal salt-wasting syndrome and chronic kidney disease, without hepatic, neurological, or ophthalmologic abnormalities. Laboratory tests, including ceruloplasmin (0.20 g/L), 24-h urinary copper (20.8 µg/24 h), and liver function were within normal or borderline ranges, not fulfilling Wilson’s disease diagnostic criteria (Leipzig score < 4). Renal biopsy revealed marked copper accumulation within tubular epithelial cells, and immunohistochemistry showed reduced ATP7B expression. Whole-exome sequencing identified a heterozygous ATP7B mutation (c.2621 C > T, p.Ala874Val). Given the absence of systemic copper overload, the patient was treated with corticosteroids and electrolyte replacement rather than copper-chelating agents, leading to partial clinical improvement.

Conclusion

This case suggests a possible renal-limited phenotype in an ATP7B carrier, underscoring the importance of integrating genetic testing and histopathology in unexplained tubulointerstitial nephritis. Long-term follow-up is essential to monitor for potential systemic manifestations.