儿童Bartter综合征26例病例分析

发布时间：2018-03-30 10:25

  本文选题：儿童　切入点：Bartter综合征　出处：《四川大学学报(医学版)》2017年05期

【摘要】：目的分析儿童Bartter综合征临床特征,探讨临床极易忽视的不典型表现,从而达到早期诊断、早期干预的目的,改善其预后。方法收集1999年1月至2016年12月四川大学华西第二医院儿科收治的26例儿童Bartter综合征的病例资料,分析其临床特征。结果本病主要儿童期起病,3岁前发病约61.5%,该病起病首发症状多样化,以呕吐、纳差起病约占53.8%,生长发育落后高达80.8%,伴有不同程度的低钾,低钠、低氯性碱中毒及脱水等水电解质紊乱,肾素及血管紧张素Ⅱ增高,生长发育及智力低下是儿童Bartter的特点。结论当患儿出现呕吐、纳差,生长发育落后,同时伴有低钾血症性代谢性碱中毒者,应该警惕Bartter综合征,及早行肾素-血管紧张素-醛固酮检测,必要时行基因检测。
[Abstract]:Objective to analyze the clinical features of Bartter syndrome in children and to explore the atypical manifestations which are easy to be neglected in order to achieve early diagnosis and early intervention. Methods from January 1999 to December 2016, 26 children with Bartter syndrome were collected. Results the onset of the disease was about 61.5 before the age of 3 years of age. The initial symptoms of the disease were diversified, vomiting, anorexia accounted for 53.8%, growth and development lagged as high as 80.8, accompanied by different degrees of low potassium, low sodium. Low chlorine alkalosis, dehydration and other water and electrolyte disorders, increased renin and angiotensin 鈪，

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