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摘要: 胱氨酸尿症是由SLC3A1和SLC7A9 2个基因突变引起的一类少见遗传病。随着现代技术的不断发展和进步，对于胱氨酸尿症的诊断和治疗也在不断革新，关于其基因型、表型以及基因型和表型的关系也有了更进一步的认识；此外，基因编辑有可能通过修补突变的碱基达到治愈疾病的目的。本文将对胱氨酸尿症的基因型、表型、基因型和表型关系以及治疗进展进行综述。Abstract: Cystinuria is an uncommon genetic disease caused by SLC3A1 and SLC7A9 gene mutations. With the continuous development and progress of modern technology, the diagnosis and treatment of cystinuria have been constantly innovated, and the genotype, phenotype and relationship between genotype and phenotype have been further understood. Moreover, gene editing is a possible method to cure this kind of diseases by repairing the mutated bases. In this paper, the genotypes, phenotypes, correlation between genotype and phenotype of cystinuria will be summarized and the future treatment direction will be reviewed.
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Key words:
- cystinuria /
- kidney stone /
- genotype /
- phenotype /
- treatment
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