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Article

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

BMC nephrology - 28 Apr 2026

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42050436
DOI: 10.1186/s12882-026-04993-z
PMCID: PMC13270652

Genes

ATP7B

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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