中华内分泌代谢杂志
中華內分泌代謝雜誌
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
董暉%郎豔華%邵澤平%李林%邵樂平
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.
對閤併甲狀腺疾病的2例Gitelman綜閤徵可疑患者及傢庭成員進行SLC12A3基因分析,證實2例患者均為SLC12A3基因的複閤雜閤突變,3箇新突變位點被髮現.本研究提示Gitelman綜閤徵有時與其他低血鉀相關的疾病,如甲亢併存,臨床應註意鑒彆.
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.