Gitelman综合征3例并文献复习

发布时间：2018-12-10 15:46

【摘要】：目的分析3例Gitelman综合征的临床特点及诊治体会。方法选取2010年8月-2017年1月河北省唐山市工人医院诊断为Gitelman综合征的3例患者作为研究对象。回顾性分析其临床资料,并结合文献报道讨论本疾病的临床特征与治疗经验。结果 3例患者中2例青少年起病,1例成年起病,血压均正常,临床均表现为发作性无力和手足搐搦,伴多饮多尿,夜尿多,实验室检查为低钾、低钠、低氯、低镁血症,血钙偶有降低,高尿钾,代谢性碱中毒,低尿钙/肌酐比(≤0.2),血浆肾素活性明显升高,血浆醛固酮正常,排除钾摄入不足、消化道失钾、应用排钾性药物、原发性醛固酮增多症、库欣综合征等疾病,诊断为Gitelman综合征,给予补钾补镁等药物联合治疗,患者症状缓解,血钾升至接近正常。结论 Gitelman综合征的临床特点为乏力、手足搐搦,血压正常,实验室检查为低钾、低镁血症、代谢性碱中毒,血浆肾素活性升高,血浆醛固酮升高或正常。治疗需补钾、补镁等药物联合应用,预后良好,但低镁血症较难纠正,早期诊治可避免肾功能损害。
[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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