%0 Case Reports
%T A female patient with Dent disease due to skewed X-chromosome inactivation.
%A D'Ambrosio V
%A Wan ER
%A Siew K
%A Hayes W
%A Walsh SB
%J Clin Kidney J
%V 17
%N 6
%D 2024 Jun
%M 38873575
%F 5.86
%R 10.1093/ckj/sfae092
%X 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 CLCN5 gene and a skewed X-chromosome inactivation. Although cases of overt Dent disease type 2 and Lowe syndrome in women have been described in the literature, to our knowledge this is the first case of overt Dent disease type 1.