目的 探讨以肾结石起病的胱氨酸尿症患儿的临床表现和基因突变.方法 回顾3例以肾结石起病的胱氨酸尿症患儿的临床资料,以及通过PCR扩增测序测定的SLC3A1和SLC7A9基因结果.结果 3例男性患儿来自三个无关家系,2例于1岁时、1例于14岁时因肾结石就诊.3例患儿的血氨基酸谱无异常,游离肉碱降低;尿氨基酸谱分析提示胱氨酸、鸟氨酸、精氨酸和苏氨酸部分增高.基因分析证实1例为SLC7A9基因c.325 G>A纯合突变,父母为c.325 G>A杂合突变的携带者;另2例均为SLC3A1基因复合杂合突变,分别为c.1365 delG和c.1113 C>A复合杂合突变,c.1897_1898 insTA和c.1093 C>T复合杂合突变,其父母均为杂合突变携带者.经确诊胱氨酸尿症后,予枸橼酸钾、左卡尼汀等治疗,患儿病情好转.结论 对于肾结石患儿应高度重视可能存在的遗传代谢病,尿液氨基酸分析、基因检测是确诊胱氨酸尿症的重要方法.%Objective To explore the clinical features and genetic etiology of children with cystinuria with onset of kidney stone. Methods The clinical data of 3 children with cystinuria with onset of kidney stone and the gene analysis results of SLC3A1 and SLC7A9 by PCR sequencing were retrospectively analyzed.Results Three male children were from three unrelated families, kidney stone were presented in 2 cases at 1 year old and 1 case at 14 years old. The blood amino acid spectrum was normal in all 3 cases, while the free carnitine were decreased. The urinary amino acid spectrum indicated that cystine, ornithine, arginine,and threonine increased.Gene analysis confirmed that 1 case had homozygous mutations of SLC7A9 gene c.325G>A, and his parents were carriers of c.325G>A heterozygous mutation;other 2 cases had heterozygous mutations of SLC3A1 gene, c.1365delG and c.1113C>A heterozygous mutation in one case, and c.1897_1898insTA and c.1093C>T heterozygous mutation in one case, and their parents were heterozygous mutation carriers. After treatment with potassium citrate and L-carnitine, the conditions were improved in all cases. Conclusions Inherited metabolic disease should be considered for children with kidney stone. Urine amino acid analysis and gene detection are important methods for the diagnosis of cystinuria.
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