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

Sep 28, 2026

Concurrent diagnosis of Dent’s disease type 1 (DD1) and Wilson’s disease (WD) in a single individual has not been previously documented, creating complex differential challenges across renal and hepatic manifestations. A two-year-old Chinese boy presented with isolated low-molecular-weight proteinuria and mildly elevated liver enzymes. Genetic testing confirmed CLCN5 and ATP7B pathogenic variants, supported by biochemical markers and a Leipzig score of 7. This case highlights the value of comprehensive genetic evaluation for precision medicine and treatment selection.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages5

Reading Time13 min

AccessFree to download

Case report

Abstract

Introduction

Case presentation

Conclusion

Table 1: Specific laboratory investigations of the index patient

Mao et al. BMC Nephrology (2026) 27:4 [https://doi.org/10.1186/s12882-025-04641-y](https://doi.org/10.1186/s12882-025-04641-y) BMC Nephrology CASE REPORT Open Access Unprecedented coexistence of Dent’s disease type 1 and Wilson’s disease in a two-yearold Chinese boy: implications for precision medicine Qingxian Mao 1, Wai W. Cheung2,3, Ruochen Che 1, Fei Zhao 1, Xueqin Cheng 1*† and Guixia Ding 1*† Abstract 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. Keywords Dent’s disease, Wilson’s disease, Low-molecular-weight proteinuria, CLCN5, ATP7B †Xueqin Cheng and Guixia Ding contributed equally to this work. *Correspondence: Xueqin Cheng[duoer417@126.com](duoer417@126.com)[ ](duoer417@126.com)Guixia Ding[bhgyuan@163.com](bhgyuan@163.com) 1Department of Nephrology, Children’s Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing, Jiangsu Province 210029, China 2Yangtze Delta Region Institute of Tsinghua University, Jiaxing 314000, China 3Division of pediatric Nephrology, Rady Children’s Hospital, University of California, San Diego, CA 92093, USA © The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creati](http://creati)[vecommons.org/l](vecommons.org/l)icenses/by-nc-nd/4.0/. Mao et al. BMC Nephrology (2026) 27:4 Introduction Dent’s Disease (DD) is a rare X-linked tubulopathy characterized by low-molecular-weight proteinuria (LMWP) and hypercalciuria, which often progress to nephrocalcinosis, nephrolithiasis, and chronic kidney disease. The disorder arises from variants in the CLCN5 gene (Type 1) or the OCRL gene (Type 2), both located on the X chromosome. Diagnosis relies on biochemical profili

FAQs

What clinical findings were reported for the two-year-old patient?

The patient showed isolated low-molecular-weight proteinuria and mildly elevated liver enzymes at presentation.

Which genetic variants confirmed the diagnoses of DD1 and WD?

DD1 was confirmed by a hemizygous CLCN5 variant (c.1756C>T, p.R586W), and WD was confirmed by compound heterozygous ATP7B variants (c.994G>T, p.Glu332*; c.4014T>A, p.Ile1338=).

Why is comprehensive genetic testing important in this case?

The coexistence of DD1 and WD is rare and involves different inheritance mechanisms, so broad genetic testing clarifies complex multi-system phenotypes and supports precision-guided therapy decisions, including avoiding potentially nephrotoxic treatments like D-penicillamine.

Sep 28, 2026

Uploaded by anakgang17