女性Dent病1例CLCN5基因突变所致的低分子量蛋白尿(LMWP)患者报道较少,这些人也患有特纳综合征(TS)的病例甚至几乎没有记录。
这里我们报道了一个3岁11个月大的中国女孩,身材矮小,核型为46,X,i(X)(q10)和X染色体短臂上CLCN5基因中的从头致病性变异体。实验室检查显示患者有LMWP,高钙尿症,低磷酸盐血症,骨龄延迟,和生殖器发育不良.
i(X)(q10)和CLCN5突变的组合导致野生型CLCN5等位基因的缺失,从而导致Dent-1和TS。据我们所知,这是第一个案例,女性CLCN5突变半合子被诊断为Dent-1和Turner综合征由于同染色体X。我们的病例表明,由于女性患有Dent-1的轻度症状,这种情况的患病率可能在很大程度上被低估了。
Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.
Here we report a 3-year and 11-month old Chinese girl with short stature who had a karyotype of 46,X,i(X)(q10) and a de novo pathogenic variant in the CLCN5 gene on the short arm of X chromosome. Laboratory examinations showed that the patient had LMWP, hypercalciuria, hypophosphatemia, delayed bone age, and genital dysplasia.
The combination of i(X)(q10) and CLCN5 mutation causes the deletion of the wild-type CLCN5 allele that results in Dent-1 and TS. To the best of our knowledge, this is the first
case that a female CLCN5 mutation
hemizygote is diagnosed with Dent-1 and Turner syndrome due to isochromosome X. Also, our
case has indicated that the prevalence of the situation may be largely underestimated because of the mild signs of females with Dent-1.