A female patient with Dent disease due to skewed X-chromosome inactivation.

X-linked proximal tubulopathies are rare diseases that predominantly affect men. Women are generally carriers and clinical or biochemical manifestations are usually absent or mild. We present the case of a young woman who presented with a full phenotype of Dent disease type 1 due to a de novo mutation in the

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© The Author(s) 2024. Published by Oxford University Press on behalf of the ERA.

Déclaration de conflit d'intérêts

SBW has received honoraria from Advicenne Pharmaceuticals. VDA received consultant fees from Allena Pharmaceuticals. All other authors report no conflict of interest.