【摘要】：目的分析3例Gitelman綜合征的臨床特點及診治體會。方法選取2010年8月-2017年1月河北省唐山市工人醫(yī)院診斷為Gitelman綜合征的3例患者作為研究對象。回顧性分析其臨床資料,并結(jié)合文獻報道討論本疾病的臨床特征與治療經(jīng)驗。結(jié)果 3例患者中2例青少年起病,1例成年起病,血壓均正常,臨床均表現(xiàn)為發(fā)作性無力和手足搐搦,伴多飲多尿,夜尿多,實驗室檢查為低鉀、低鈉、低氯、低鎂血癥,血鈣偶有降低,高尿鉀,代謝性堿中毒,低尿鈣/肌酐比(≤0.2),血漿腎素活性明顯升高,血漿醛固酮正常,排除鉀攝入不足、消化道失鉀、應(yīng)用排鉀性藥物、原發(fā)性醛固酮增多癥、庫欣綜合征等疾病,診斷為Gitelman綜合征,給予補鉀補鎂等藥物聯(lián)合治療,患者癥狀緩解,血鉀升至接近正常。結(jié)論 Gitelman綜合征的臨床特點為乏力、手足搐搦,血壓正常,實驗室檢查為低鉀、低鎂血癥、代謝性堿中毒,血漿腎素活性升高,血漿醛固酮升高或正常。治療需補鉀、補鎂等藥物聯(lián)合應(yīng)用,預(yù)后良好,但低鎂血癥較難糾正,早期診治可避免腎功能損害。
[Abstract]:Objective to analyze the clinical features, diagnosis and treatment of 3 cases of Gitelman syndrome. Methods three patients with Gitelman syndrome diagnosed by workers' hospital in Tangshan City, Hebei Province from August 2010 to January 2017 were selected as study subjects. The clinical data were analyzed retrospectively and the clinical features and treatment experience of the disease were discussed in combination with literature reports. Results among the 3 patients, 2 adolescents had onset and 1 adult had normal blood pressure. The clinical manifestations were paroxysmal weakness and tetany, polydipsia, nocturia, laboratory examination of hypokalemia, hyponatremia, hypochloremia, hypomagnesemia. Serum calcium level decreased, hyperkalemia, metabolic alkalosis, low urinary calcium / creatinine ratio (鈮，

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