PDF(Pubmed)
Abstract：
BACKGROUND: Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and poses a challenge to clinicians.
METHODS: A foetus and a child from a 36-year-old pregnant woman with a birth history of abnormal children were enrolled in this study. Pregnant women undergo amniocentesis for prenatal diagnosis at the gestational age of 12+ 3 weeks. Chromosomal microarray (CMA) analysis and whole-exome sequencing (WES) were employed to investigate the chromosomal copy number and single gene variants. Literature retrieval and data analysis were performed for genotype and phenotype collection analysis.
RESULTS: No chromosomal abnormalities or CNVs were detected in the entire family through karyotype and familial CMA analyses. WES identified a nonsense pathogenic variant in CLCN5 of the X chromosome, c.1942 C > T (exon 11, NM_000084), which was inherited from his mother, who exhibited regular clinical features.
CONCLUSIONS: This study suggests that children with low-molecular-weight proteinuria and hypercalciuria should undergo prompt genetic testing to exclude Dent disease.
METHODS: A foetus and a child from a 36-year-old pregnant woman with a birth history of abnormal children were enrolled in this study. Pregnant women undergo amniocentesis for prenatal diagnosis at the gestational age of 12+ 3 weeks. Chromosomal microarray (CMA) analysis and whole-exome sequencing (WES) were employed to investigate the chromosomal copy number and single gene variants. Literature retrieval and data analysis were performed for genotype and phenotype collection analysis.
RESULTS: No chromosomal abnormalities or CNVs were detected in the entire family through karyotype and familial CMA analyses. WES identified a nonsense pathogenic variant in CLCN5 of the X chromosome, c.1942 C > T (exon 11, NM_000084), which was inherited from his mother, who exhibited regular clinical features.
CONCLUSIONS: This study suggests that children with low-molecular-weight proteinuria and hypercalciuria should undergo prompt genetic testing to exclude Dent disease.
摘要：
背景：Dent病I型是一种罕见的X连锁隐性肾小管疾病，由CLCN5基因的致病变异引起。由于I型Dent病的罕见性及其表型的多样性，其临床诊断复杂，对临床医生构成挑战。
方法：这项研究纳入了一名36岁孕妇的胎儿和一名儿童，该孕妇有异常儿童的出生史。孕妇在12+3周的胎龄进行羊膜穿刺术进行产前诊断。染色体微阵列（CMA）分析和全外显子组测序（WES）用于研究染色体拷贝数和单基因变异。进行文献检索和数据分析，进行基因型和表型收集分析。
结果：通过核型和家族性CMA分析，在整个家族中未检测到染色体异常或CNV。WES在X染色体的CLCN5中鉴定出无义致病变体，c.1942C>T（外显子11，NM_000084），是从他母亲那里继承的,表现出正常的临床特征。
结论：这项研究表明，患有低分子量蛋白尿和高钙尿症的儿童应及时进行基因检测以排除Dent疾病。
方法：这项研究纳入了一名36岁孕妇的胎儿和一名儿童，该孕妇有异常儿童的出生史。孕妇在12+3周的胎龄进行羊膜穿刺术进行产前诊断。染色体微阵列（CMA）分析和全外显子组测序（WES）用于研究染色体拷贝数和单基因变异。进行文献检索和数据分析，进行基因型和表型收集分析。
结果：通过核型和家族性CMA分析，在整个家族中未检测到染色体异常或CNV。WES在X染色体的CLCN5中鉴定出无义致病变体，c.1942C>T（外显子11，NM_000084），是从他母亲那里继承的,表现出正常的临床特征。
结论：这项研究表明，患有低分子量蛋白尿和高钙尿症的儿童应及时进行基因检测以排除Dent疾病。
