{Reference Type}: Case Reports
{Title}: A female patient with Dent disease due to skewed X-chromosome inactivation.
{Author}: D'Ambrosio V;Wan ER;Siew K;Hayes W;Walsh SB;
{Journal}: Clin Kidney J
{Volume}: 17
{Issue}: 6
{Year}: 2024 Jun
{Factor}: 5.86
{DOI}: 10.1093/ckj/sfae092
{Abstract}: 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.