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Abstract：
Nephrolithiasis is a highly prevalent disease worldwide that is associated with significant suffering, renal failure, and cost for the healthcare system. A patient with nephrolithiasis was found to have SLC6A20 variation. SLC6A20 gene in human is located on chromosome 3p21.3, which is a member of SLC6 family of membrane transporters and the product of this gene expression is transporter protein of sub-amino acid transporter system. The previous studies have reported that the mutation of SLC6A20 may cause hyperglycinuria or iminoglycinuria which may lead to nephrolithiasis. The object was to investigate the relationship between nephrolithiasis and SLC6A20 through pedigree genetic analysis. To explore whether the SLC6A20 mutation can cause hereditary nephrolithiasis, and provide evidence for further research. The urine and blood were collected from the patients for compositional analysis. DNA sequencing was applied to analyze the gene mutation. Labial gland and kidney biopsy were conducted for pathological analysis. As a result we reported a rare family case of nephrolithiasis accompanied by primary Sjogren\'s syndrome and investigated it by examining the family members with whole exome gene sequencing technology and detecting 20 different amino acids and 132 kinds of organic acids in the urine with gas chromatography-mass spectrometry. We discovered that the proband and her mother had hyperglycinuria and the proband (Ⅱ2), her sister (Ⅱ3), and mother (Ⅰ1) were found to carry the SLC6A20 gene exon NM_020208.3 sequence c.1072T > C heterozygous mutation, and the other family members (Ⅰ2, Ⅱ1, Ⅱ4, Ⅲ1, Ⅲ2) did not carry the genetic mutation. As a conclusion, the heterozygous mutation of SLC6A20 (c.1072T > C) might be contributed to hyperglycinuria and the formation of nephrolithiasis.
摘要：
肾结石是世界范围内一种高度流行的疾病，与严重的痛苦有关，肾功能衰竭,以及医疗保健系统的成本。发现一名患有肾结石的患者患有SLC6A20变异。人类SLC6A20基因位于3p21.3染色体上，是SLC6膜转运蛋白家族的成员，该基因表达的产物是亚氨基酸转运系统的转运蛋白。先前的研究报道SLC6A20的突变可引起高血糖尿症或亚氨基甘氨酸尿症，从而导致肾结石。目的通过家系遗传分析探讨肾结石与SLC6A20的关系。探讨SLC6A20突变是否可引起遗传性肾结石,并为进一步研究提供证据。从患者收集尿液和血液用于成分分析。DNA测序用于分析基因突变。进行唇腺和肾脏活检进行病理分析。结果我们报道了一例罕见的肾结石合并原发性干燥综合征的家族病例，并通过全外显子组基因测序技术检查家族成员，并通过气相色谱-质谱检测尿液中20种不同的氨基酸和132种有机酸进行了调查。我们发现先证者和她的母亲有高血糖尿和先证者（Ⅱ2），她的妹妹（Ⅱ3），且母本(Ⅰ1)均携带SLC6A20基因外显子NM_020208.3序列c.1072T>C杂合突变,其他家族成员(Ⅰ2、Ⅱ1、Ⅱ4、Ⅲ1、Ⅲ2)未携带基因突变。作为结论,SLC6A20的杂合突变(c.1072T>C)可能导致高血糖尿症和肾结石的形成。
