病例报告：一名患有牙本质发育不全 1 型和特纳综合征的中国女孩，其病因是 CLCN5 基因半合子突变和 X 染色体等臂染色体（Xq）。
Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).
机构信息
Department of Nephrology, The Children's Hospital of Zhejiang University School of Medicine, #57 Zhugan Lane, Hangzhou, 310003, China.
Chigene (Beijing) Translational Medical Research Center Co. Ltd., E2 Biomedical Park, #88 Kechuang Sixth Ave, Yizhuang, Beijing, China.
出版信息
BMC Nephrol. 2020 May 11;21(1):171. doi: 10.1186/s12882-020-01827-4.
BACKGROUND
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.
CASE PRESENTATION
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.
CONCLUSION
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.
背景
由于 CLCN5 基因突变导致低分子量蛋白尿（LMWP）的女性 Dent 病 1 患者很少见，并且以前几乎没有记录过这些患有 Turner 综合征（TS）的病例。
病例介绍
我们在此报告了一名 3 岁 11 个月大的中国女孩，其核型为 46，X，i（X）（q10），并且 X 染色体短臂上的 CLCN5 基因存在新生致病性变异。实验室检查显示，患者有 LMWP、高钙尿症、低磷血症、骨龄延迟和生殖器发育不良。
结论
i（X）（q10）和 CLCN5 突变的组合导致野生型 CLCN5 等位基因缺失，从而导致 Dent-1 和 TS。据我们所知，这是首例由于 X 染色体等臂染色体导致的 CLCN5 突变半合子女性 Dent-1 和 Turner 综合征的病例。此外，我们的病例表明，由于 Dent-1 女性的体征较轻，这种情况的患病率可能被大大低估了。
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