Gitelman综合征合并甲状腺疾病:两例患者SLC12A3基因分析
Gitelman종합정합병갑상선질병:량례환자SLC12A3기인분석
Coexistence of Gitelman's syndrome and thyroid disease: SLC12A3 gene analysis in two patients
  • 万方数据
    中华内分泌代谢杂志 중화내분비대사잡지
    CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
    2010年 5期 395-398 ,共4页

    董晖%郎艳华%邵泽平%李林%邵乐平

    동휘%랑염화%소택평%리림%소악평

    Gitelman综合征%Graves病%低血钾%突变%SLC12A3 Gitelman綜閤徵%Graves病%低血鉀%突變%SLC12A3
    Gitelman종합정%Graves병%저혈갑%돌변%SLC12A3
    Gitelman's syndrome%Graves' disease%Hypokalemia%Mutation%SLC12A3
    对合并甲状腺疾病的2例Gitelman综合征可疑患者及家庭成员进行SLC12A3基因分析,证实2例患者均为SLC12A3基因的复合杂合突变,3个新突变位点被发现.本研究提示Gitelman综合征有时与其他低血钾相关的疾病,如甲亢并存,临床应注意鉴别.
    대합병갑상선질병적2례Gitelman종합정가의환자급가정성원진행SLC12A3기인분석,증실2례환자균위SLC12A3기인적복합잡합돌변,3개신돌변위점피발현.본연구제시Gitelman종합정유시여기타저혈갑상관적질병,여갑항병존,림상응주의감별.
    Two patients with coexistence of thyroid disease and suspected Gitelman's syndrome underwent SLC12A3 gene analysis. The results confirmed that both patients were compound heterozygotes of SLC12A3 gene mutation. Three novel variants of SLC12A3 were found in this study. This report suggests that Gitelman's syndrome may coexist with other disorders associated with hypokalemia, such as Graves' disease.
    원문보기 원문다운로드 사이트로이동
저자의 최근 논문