Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children
Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children
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DOI：
10.7754/clin.lab.2018.180110
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发表时间：
2018-01-01
影响因子：
0.7
通讯作者：
Yang, Yan-Ling
中科院分区：
文献类型：
--
作者：
Ma, Yan-Yan;Liu, Yu-Peng;Yang, Yan-Ling
背景：胱氨酸尿症是由SLC3A1和SLC7A9基因突变引起的一种罕见的遗传性肾结石疾病。中国胱氨酸尿的表型和基因型在文献中很少报道。方法：对7例患儿的临床特点及遗传病因进行分析，总结临床特点。分析血、尿氨基酸及酰基肉碱含量。此外，我们还分析了SLC3A1和SLC7A9基因的整个编码序列和外显子-内含子连接。结果：7例胱氨酸尿病患者来自7个无血缘关系的中国家庭，确诊年龄在1个月至16岁之间。尿氨基酸，包括鸟氨酸、精氨酸和苏氨酸，在这些患者中升高。在2例患者中发现了SLC7A9的c.325G bbbba纯合子突变，在5例患者中发现了6个SLC3A1突变。结论：核心家系分析显示，多数父母携带突变；然而，临床病程与基因型之间没有相关性。
Background: Cystinuria is a rare inherited renal stone disease caused by mutations in the SLC3A1 and SLC7A9 genes. The Chinese cystinuria phenotype and genotype have rarely been reported in the literature.Methods: For this research, the clinical features and genetic etiology were analyzed in seven children, and the clinical characteristics were summarized. The blood and urine amino acids and acylcarnitine were analyzed. Additionally, the whole coding sequence and exon-intron junctions of the SLC3A1 and SLC7A9 genes were analyzed.Results: These seven patients with cystinuria were from seven unrelated Chinese families, and they were diagnosed between the ages of 1 month and 16 years old. The urinary amino acids, including ornithine, arginine, and threonine, were elevated in these patients. A homozygous c.325G>A mutation in SLC7A9 was identified in two patients, and six SLC3A1 mutations were found in five patients.Conclusions: The core pedigree analysis showed that most of the parents carried mutations; however, there was no association between the clinical course and the genotype.