A female patient with Dent disease due to skewed X-chromosome inactivation.
Clin Kidney J
; 17(6): sfae092, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38873575
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Kidney J
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Reino Unido