Gitelman综合征3例并文献复习

Experience of diagnosis and treatment of Gitelman syndrome

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。

Objective To analyze the clinical characteristics and provide the experiences in diagnosis and treatment of 3 cases of Gitelman syndrome （GitS）. Methods Three patients diagnosed as GitS were selected as the objects in Tangshan gongren Hospital from Aug. 2010 to Jan. 2017. Their clinical data were retrospectively analyzed and combined with the related literatures, and the clinical characteristics and treatment experiences of the disease were discussed. Results Of the 3 patients, 2 were teenager onset and another one was adult onset. The blood pressure of the 3 patients was normal, and the clinical features were as paroxysmal weakness, tetany, polyuria and nocturia increased. Laboratory tests revealed low potassium, low sodium, low chlorine, hypomagnesemia, occasionally hypocalcemia, high urinary potassium, metabolic alkalosis, urine Ca/Cr ~ 0.2, plasma rennin activity increased significantly and plasma aldosterone was normal. Being eliminated symptoms and phenomena were the potassium intake inadequate, loss of potassium in digestive tract, taking potassium excretion drugs, primary aldosteronism and Cushing syndrome. etc. Patients got symptoms relief and serum potassium level rose to near normal level after receiving the combined potassium and magnesium supplement. Conclusions The clinical characteristics of GitS manifest as fatigue, tetany, normal blood pressure, hypokalemiaj hypomagnesemia, metabolic alkalosis, plasma rennin activity increases significantly and plasma aldosterone rises or normal. Treatment with combined potassium and magnesium supplement may lead to a good prognosis, but hypomagnesemia is harder to correct. Kidney damage can be avoided by early diagnosis and treatment.