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Background <p>The concurrent diagnosis of Dent’s disease type 1 (DD1) and Wilson’s disease (WD) in a single individual has not been previously documented. The co-occurrence of these two distinct autosomal recessive and X-linked disorders poses significant diagnostic challenges.</p> Case presentation <p>We describe a two-year-old Chinese boy who presented with isolated low-molecular-weight proteinuria (LMWP) and mildly elevated liver enzymes. Genetic analysis revealed a hemizygous variant in the <i>CLCN5</i> gene (c.1756C&gt;T, p.R586W) and compound heterozygous variants in the <i>ATP7B</i> gene (c.994G&gt;T, p.Glu332* and c.4014T&gt;A, p.Ile1338=), confirming the diagnoses of DD1 and WD, respectively. The diagnosis was supported by characteristic biochemical findings, including markedly reduced serum caeruloplasmin and elevated 24-hour urinary copper excretion, culminating in a Leipzig score of 7.</p> Conclusion <p>This case represents the first reported instance of concomitant DD1 and WD. It underscores the critical role of comprehensive genetic testing in elucidating complex pediatric phenotypes involving multi-system presentations and highlights the practical implications for precision medicine in guiding diagnosis and therapeutic strategy, particularly in avoiding potentially nephrotoxic treatments like D-penicillamine.</p> Clinical trial registration <p> Not applicable. This article is a case report and does not report results of a clinical trial.</p>

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Unprecedented coexistence of Dent’s disease type 1 and Wilson’s disease in a two-year-old Chinese boy: implications for precision medicine

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月25日

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  • Qingxian Mao,
  • Wai W. Cheung,
  • Ruochen Che,
  • Fei Zhao,
  • Xueqin Cheng,
  • Guixia Ding

摘要

Background

The concurrent diagnosis of Dent’s disease type 1 (DD1) and Wilson’s disease (WD) in a single individual has not been previously documented. The co-occurrence of these two distinct autosomal recessive and X-linked disorders poses significant diagnostic challenges.

Case presentation

We describe a two-year-old Chinese boy who presented with isolated low-molecular-weight proteinuria (LMWP) and mildly elevated liver enzymes. Genetic analysis revealed a hemizygous variant in the CLCN5 gene (c.1756C>T, p.R586W) and compound heterozygous variants in the ATP7B gene (c.994G>T, p.Glu332* and c.4014T>A, p.Ile1338=), confirming the diagnoses of DD1 and WD, respectively. The diagnosis was supported by characteristic biochemical findings, including markedly reduced serum caeruloplasmin and elevated 24-hour urinary copper excretion, culminating in a Leipzig score of 7.

Conclusion

This case represents the first reported instance of concomitant DD1 and WD. It underscores the critical role of comprehensive genetic testing in elucidating complex pediatric phenotypes involving multi-system presentations and highlights the practical implications for precision medicine in guiding diagnosis and therapeutic strategy, particularly in avoiding potentially nephrotoxic treatments like D-penicillamine.

Clinical trial registration

Not applicable. This article is a case report and does not report results of a clinical trial.