【摘要】 目的探讨Bartter综合征(Bartter syndrome,BS)的临床特点、诊治要点及误诊原因、防范措施。方法对1例长期误诊为甲状旁腺功能减退症的BS的临床资料进行回顾性分析。结果患者因反复手足抽搐、全身乏力25年入院。曾多次在多家医院就诊误诊为甲状旁腺功能减退症,此次患者因频繁手足抽搐和乏力,再次于我院住院治疗。因甲状旁腺激素水平正常,但合并多种电解质异常,考虑是否肾小管对钠钾转运障碍,经过反复血尿电解质、血肾素、血醛固酮检查及行浓缩稀释试验,确诊为BS,给予补充钾、镁和螺内酯治疗。入院第14天患者病情好转出院,出院时查血钾4.1 mmol/L,乏力明显改善,偶有手足抽搐;出院后1年随访,继续以上治疗,查血钾为4.0 mmol/L,未再出现手足抽搐,无明显乏力。结论 BS临床少见,易误诊。提高对该病认识、发散诊断思维、及时进行相关医技检查及全面对病情进行分析可减少其误诊误治。更多还原

【Abstract】 Objective To investigate clinical characteristics,key points of diagnosis and treatment,misdiagnosed reasons and prevention measures of Bartter syndrome( BS). Methods Clinical data of 1 BS patients misdiagnosed as having hypoparathyroidism for a long-term was retrospectively analyzed. Results The patient was admitted for repeated tetany and malaise for 25 year,and was misdiagnosed as having hypoparathyroidism for many times in other hospitals. The patient was admitted again for frequent tetany and fatigue in hand and foot. Sodium and potassium transport disorder obstructed by kidney tubules was considered due to normal level of parathyroid hormone complicated by multiple abnormal electrolyte,and then BS was confirmed after repeated hematuria electrolyte examination,blood renin,aldosterone examination and concentration dilution test. The patient was discharged at 14 dadmission after condition was improved by supplement of potassium,magnesium and spironolactone therapy. Examination at discharging showed that blood potassium was 4. 1 mmol / L,and malaise was improved with tetany in hand and foot sometimes. The above treatments were continued during 1 year of follow-up after discharge,and examination showed that the blood potassium was 4. 0 mmol / L without tetany in hand and foot or obvious malaise.Conclusion BS is rare and easy to be misdiagnosed. Misdiagnosis and missed diagnosis can be decreased by improving understanding of this disease,divergent thinking of diagnosis,performing medical examination timely and comprehensive analysis of condition.更多还原