邵长娟, 韩正斌, 朱敏, 周冉, 施永仿. 20例Gitelman综合征患者中高发突变的基因型与表型关系[J]. 临床肾脏病杂志, 2019, 19(1): 39-43. DOI: 10.3969/j.issn.1671-2390.2019.01.008
    引用本文: 邵长娟, 韩正斌, 朱敏, 周冉, 施永仿. 20例Gitelman综合征患者中高发突变的基因型与表型关系[J]. 临床肾脏病杂志, 2019, 19(1): 39-43. DOI: 10.3969/j.issn.1671-2390.2019.01.008
    shu
    SHAO Chang-juan, HAN Zheng-bin, ZHU Min, ZHOU Ran, SHI Yong-fang. Relationship between genotype and phenotype of high mutation in 20 patients with gitelman syndrome[J]. Journal of Clinical Nephrology, 2019, 19(1): 39-43. DOI: 10.3969/j.issn.1671-2390.2019.01.008
    Citation: SHAO Chang-juan, HAN Zheng-bin, ZHU Min, ZHOU Ran, SHI Yong-fang. Relationship between genotype and phenotype of high mutation in 20 patients with gitelman syndrome[J]. Journal of Clinical Nephrology, 2019, 19(1): 39-43. DOI: 10.3969/j.issn.1671-2390.2019.01.008
    shu

    20例Gitelman综合征患者中高发突变的基因型与表型关系

    Relationship between genotype and phenotype of high mutation in 20 patients with gitelman syndrome

      摘要
    • 摘要: 目的 对收集的枣庄地区和青岛地区20例Gitelman综合征患者进行致病基因SLC12A3的突变基因型及表型进行分析，探讨其中高发突变的基因型与表型的关系。方法 本研究组选取2013至2016年在青岛大学附属医院和枣庄矿业集团中心医院住院治疗的20例经基因测序确诊的Gitelman综合征患者。其中男性13例，女性7例，平均年龄（33±12）岁。收集20例患者的一般临床资料和相关的实验室检查结果，包括性别、发病年龄、症状、体征、血压、血钾、血镁、血HCO3-、血浆肾素活性、血浆醛固酮、24h尿Ca2+/Cr。查找20例经基因确诊患者的突变基因型。将不同突变基因型的患者的一般临床资料和实验室检查结果进行相应的分析比较。对50例非相关的健康者进行相关的基因测序，查找有无SLCl2A3基因上的突变。结果 20例患者中均存在SLC12A3的突变，共发现了15个相关的突变位点，其中错义突变9个（Cys430Gly、Leu571Pro、Thr60Met、Asp486Asn、Glu429Lys、Ala264Gly、Ser283Thr、Thr163Met、Arg913Gln），缺失突变5个（1384delG、346-353delACTGATGG、2883-2884delAG、1740delC、2877-2878delAG），插入突变1个（997insCys）；其中杂合突变2例，纯合突变1例，复合杂合突变17例；有8例患者发现了Ala264Gly的突变，发生率约为20.5%。Ala264GLy携带者的发病年龄、四肢乏力、手足搐搦、多尿等症状的发生与携带其他突变的患者无显著性差异，实验室检查方面Ala264Gly携带者的血钾、血镁、血HCO3-、血浆肾素活性、血浆醛固酮、24h尿Ca2+/Cr与携带其他突变的患者差异无统计学意义。结论 ALa264Gly突变可能是本研究中两个地区的高频突变，但Ala264Gly导致的临床表型无特异性。

       

      Abstract: Objective To analyze the mutation genotype and phenotype of pathogenic gene SLC12A3 in 20 patients with Gitelman syndrome collected from Zaozhuang, and investigate the relationship between genotype and phenotype of the high mutation. Methods The enrolled included 20 patients with Gitelman syndrome confirmed by gene sequencing from 2013 to 2016 in the Affiliated Hospital of Qingdao University and Central Hospital of Zaozhuang Mining Group. There were 13 males and 7 females, with an average age of (33±12) years. The mutant genotype, clinical manifestation, serum potassium, serum magnesium, blood bicarbonate, plasma angiotensin, aldosterone, and 24h urinary calcium/creatinine were analyzed in 20 patients. The mutant genotype was found in 20 patients. The general clinical data and laboratory test results of different genotypes were correspondingly analyzed and compared. Gene sequencing was performed on 50 unrelated healthy subjects to find if there were any mutations in the SLCl2A3 gene.Results Mutations in the SLCl2A3 gene were found in 20 patients. A total of 15 related mutations were identified, including 9 missense mutations (Cys430Gly, Leu571Pro, Thr60Met, Asp486Asn, Glu429Lys, Ala264Gly, Ser283Thr, Thr163Met, Arg913Gln), 5 deletion mutations (1384delG, 346-353delACTGATGG, 2883-2884delAG, 1740delC, 2877-2878delAG), 1 insertion mutation (997insCys). Heterozygous mutations were found in 2 cases, homozygous mutations in 1 case, and heterozygous heterozygous mutations in 17 cases. The Ala264gly mutation was found in 8 cases, and the incidence was 20.5%. There was no significant difference in the clinical manifestations between Ala264Gly carriers and patients with other mutations. There was no significant difference in serum potassium, serum magnesium, blood bicarbonate, plasma angiotensin, aldosterone, and 24-h urinary calcium/creatinine between Ala264Gly carriers and patients with other mutations. Conclusions The Ala264Gly mutation may be a high frequency mutation in two regions of this study. The clinical phenotype caused by high incidence mutation Ala264Gly was not specific.

       

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