协和医学杂志2015，Vol.6Issue(6)：427-431,5.DOI:10.3969/j.issn.1674-9081.2015.06.006
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
摘要
Abstract
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 muta-tions of the SLC12A3 gene were identified by direct sequencing. Results GS was diagnosed based on compre-hensive 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 cDNA sequence of SLC12 A3 gene (c. 1964 G>A), which caused a missense mutation of arginine to histidine at codon 655 (p. Arg655His). It oc-curred at the 16 th exon of SLC12 A3 . Conclusions SLC12 A3 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 per-sisting hypokalemia, renal potassium loss, metabolic alkalosis, normal or low-than-normal blood pressure, and hypocalcuria. Genetic analysis of SLC12A3 may be helpful to confirm the diagnosis.关键词
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Key words
Gitelman's syndrome/hypokalemia/SLC12A3 gene/thiazide-sensitive Na-Cl cotransporter/gene mutation分类
医药卫生引用本文复制引用
努荣古丽买买提,张化冰,邢小平..一例维吾尔族Gitelman综合征患者的临床与基因突变分析[J].协和医学杂志,2015,6(6):427-431,5.基金项目
国家临床重点专科建设项目(WBYZ2011-873) （WBYZ2011-873）
北京协和医院中青年科研基金(pumch-2013-060) （pumch-2013-060）
