PDF(Pubmed)
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.
摘要：
X连锁近端肾小管病变是罕见的疾病，主要影响男性。女性通常是携带者，临床或生化表现通常不存在或轻度。我们介绍了一个年轻女性的案例，该女性由于CLCN5基因的从头突变和X染色体失活而表现出1型Dent病的完整表型。尽管在文献中已经描述了女性明显的2型Dent病和Lowe综合征的病例，据我们所知，这是第一例公开的Dent疾病1型。
