协和医学杂志

2015, v.6(06) 427-431

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一例维吾尔族Gitelman综合征患者的临床与基因突变分析
Clinical and Genetic Analysis of a Uyghur Patient with Gitelman's Syndrome

努荣古丽买买提;张化冰;邢小平;
MAIMAITI Nu-rong-gu-li;ZHANG Hua-bing;XING Xiao-ping;Department of Endocrinology,Key Laboratory of Endocrinology of Ministry of Health,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Endocrinology,Xinjiang Uygur Autonomous Region People's Hospital;

摘要(Abstract):

目的探讨1例维吾尔族Gitelman综合征(Gitelman's syndrome,GS)患者的临床表现及其分子生物学基础。方法详细收集患者的临床资料、生化检查及影像学检查结果,抽取外周静脉血,提取基因组DNA,聚合酶链反应(polymerase chain reaction,PCR)扩增SLC12A3基因的26个外显子及其与内含子的交界区,测序确定突变情况。结果患者临床表现、实验室检查和影像学检查符合GS诊断。基因突变分析显示,患者SLC12A3基因c DNA序列的第1964位鸟嘌呤G纯合突变为腺嘌呤A(c.1964 G>A),造成第655位氨基酸由精氨酸改变为组氨酸(p.Arg655His),该突变位于SLC12A3的第16外显子。结论通过SLC12A3基因突变分析,从分子遗传学方面证实1例维吾尔族患者GS的诊断。临床上持续低血钾、肾脏失钾、代谢性碱中毒、血压正常或偏低、低尿钙的患者应考虑该疾病诊断,基因分析有助于确诊。
Objective To analyze the clinical manifestations and molecular basis of a Uyghur patient with Gitelman's syndrome( GS). Methods Clinical features,laboratory data,and imaging results of this patient were collected. Genomic DNA was extracted from leukocytes of peripheral blood of the patient. Twenty-six exons of the GS gene and their boundaries with introns were amplified by polymerase chain reaction( PCR). The mutations of the SLC12A3 gene were identified by direct sequencing. Results GS was diagnosed based on comprehensive consideration of clinical presentations,laboratory test results,and imaging findings. Gene mutation test revealed a nucleotide substitution of adenine for guanine at the position 1964 of c DNA sequence of SLC12A3 gene( c. 1964 G > A),which caused a missense mutation of arginine to histidine at codon 655( p. Arg655His). It occurred at the 16 th exon of SLC12A3. Conclusions SLC12A3 gene mutation analysis confirms the diagnosis of GS in this Uyghur patient from the aspect of molecular genetics. GS should be suspected in patients with persisting hypokalemia,renal potassium loss,metabolic alkalosis,normal or low-than-normal blood pressure,andhypocalcuria. Genetic analysis of SLC12A3 may be helpful to confirm the diagnosis.

关键词(KeyWords): Gitelman综合征;低钾血症;SLC12A3基因;噻嗪类敏感的钠氯共转运蛋白;基因突变
Gitelman's syndrome;hypokalemia;SLC12A3 gene;thiazide-sensitive Na-Cl cotransporter;gene mutation

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基金项目(Foundation): 国家临床重点专科建设项目(WBYZ2011-873);; 北京协和医院中青年科研基金(pumch-2013-060)

作者(Author): 努荣古丽买买提;张化冰;邢小平;
MAIMAITI Nu-rong-gu-li;ZHANG Hua-bing;XING Xiao-ping;Department of Endocrinology,Key Laboratory of Endocrinology of Ministry of Health,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Endocrinology,Xinjiang Uygur Autonomous Region People's Hospital;

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