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目的探讨中国人Gitelman综合征(GS)的临床特征,提高对该疾病的认识和诊治水平。方法分析上海瑞金医院2012年1月至2013年10月收集到的47例GS患者的临床表现以及血、尿电解质,血pH,肾素-血管紧张素-醛固酮(RAAS),尿蛋白等和糖代谢等检查情况,比较不同性别和病程组患者之间的差异。结果患者平均发病年龄为24.5岁,31.9%有家族史,血压正常,肢体乏力为最常见的首发症状。血钾和血镁浓度分别为2.45 mmol/L和0.57 mmol/L,24 h尿钾为73.5 mmol,尿钙/尿肌酐比值为0.09;血管紧张素Ⅱ浓度为201.3 ng/L和醛固酮浓度为557.7 pmol/L。44.7%的患者存在不同程度的糖代谢异常。男性患者的平均收缩压、HCO-3浓度和24 h尿蛋白定量高于女性患者。病程≥5年组中,58.8%患者存在糖代谢异常。结论 GS临床较为常见,患者青少年发病多见,血压正常,低钾、低镁、低尿钙,低氯性代谢性碱中毒,常合并RAAS激活和糖代谢异常。氯离子清除试验和基因检测有助于不典型患者的确诊。
Objective To investigate the clinical features of Chinese Gitelman syndrome (GS) and to improve the understanding and diagnosis and treatment of the disease. Methods The clinical manifestations of 47 patients with GS who were collected from January 2012 to October 2013 in Shanghai Ruijin Hospital were analyzed. Blood and urine electrolytes, blood pH, RAA, urine protein and other carbohydrates Metabolism and other tests to compare the differences between patients of different genders and course of disease. Results The average age of onset of patients was 24.5 years old, 31.9% had a family history of normal blood pressure, limb weakness as the most common first symptom. The concentrations of serum potassium and magnesium were 2.45 mmol / L and 0.57 mmol / L respectively, the 24 h urinary potassium was 73.5 mmol and the ratio of urinary calcium to urinary creatinine was 0.09. The concentration of angiotensin Ⅱ was 201.3 ng / L and aldosterone concentration was 557.7 pmol / L. 44.7% of patients have different degrees of abnormal glucose metabolism. The average systolic blood pressure, HCO-3 concentration and 24 h urinary protein in male patients were higher than those in female patients. 58.8% patients had abnormal glucose metabolism during the course of more than 5 years. Conclusions GS clinical is more common. The onset of juvenile patients is more common. The blood pressure is normal, hypokalemia, low magnesium, low urinary calcium, low chlorine metabolic alkalosis, often accompanied by RAAS activation and abnormal glucose metabolism. Chloride clearance tests and genetic tests help diagnose atypical patients.