儿童胱氨酸尿症临床及基因分析

发布时间：2018-07-09 21:42

本文选题：肾结石 + 胱氨酸尿症　；参考：《临床儿科杂志》2017年12期

【摘要】：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.325GA纯合突变,父母为c.325GA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.1365del G和c.1113CA复合杂合突变,c.1897_1898ins TA和c.1093CT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。
[Abstract]:Objective to investigate the clinical manifestation and gene mutation of cysturia in children with renal calculi. Methods the clinical data of 3 children with cysturia caused by renal calculi and the results of SLC3A1 and SLC7A9 genes determined by PCR amplification and sequencing were reviewed. Results three male children from three unrelated pedigree 2 patients with renal calculi at the age of 1 had no abnormal amino acid spectrum and decreased free carnitine, the urine amino acid spectrum analysis showed that cystine, ornithine, cysteine, ornithine, cysteine and ornithine. Arginine and threonine increased in part. Gene analysis confirmed that one case was a homozygous mutation of SLC7A9 gene c. 325GA, the parents were carriers of c. 325GA heterozygosity mutation, the other two were multiple heterozygosity mutations of SLC3A1 gene, which were c.1365del G and c. 1113CA complex heterozygosity mutation c. 18971898ins TA and c. 1093CT heterozygosity, respectively. Both parents were heterozygous carriers. After the diagnosis of cysturia, the children were treated with potassium citrate and levacarnitine. Conclusion for children with renal calculi, the possible genetic metabolic diseases, urine amino acid analysis and gene detection are important methods for the diagnosis of cysteinuria.
【作者单位】：青海大学附属医院;北京大学第一医院儿科;
【基金】：国家自然科学基金(No.81471097) 国家自然科学青年基金(No.30872794) 青海省应用基础研究项目(No.2016-ZJ-730)
【分类号】：R726.9

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