儿童Bartter综合征15例临床分析

发布时间：2018-12-22 08:26

【摘要】：目的探讨儿童Bartter综合征的临床表现、诊断及治疗。方法回顾性分析15例Bartter综合征患儿的临床资料。结果 15例患儿中表现为生长发育迟滞14例(93.3%),纳差12例(80.0%),呕吐7例(46.7%),腹泻5例(33.3%),多饮多尿5例(33.3%),乏力4例(26.7%)。15例患儿均有低氯血症、低钾血症,其中重度低钾血症10例,12例患儿出现代谢性碱中毒。15例患儿中经典型Bartter综合征10例、新生儿型Bartter综合征3例、变异型Bartter综合征(Gitelman综合征)2例。15例患儿均给予大剂量补钾等纠正水电解质酸碱平衡紊乱,口服螺内酯、布洛芬悬液及卡托普利后,症状基本控制。结论儿童出现不明原因持续性低钾低氯性代谢性碱中毒及生长发育迟滞时需警惕该病可能,结合临床表现及氢氯噻嗪试验基本可诊断,基因诊断是最可靠的方法。目前主要以补钾、补镁、醛固酮拮抗剂、前列腺素拮抗剂等综合治疗为主,需终生治疗。
[Abstract]:Objective to investigate the clinical manifestation, diagnosis and treatment of Bartter syndrome in children. Methods the clinical data of 15 children with Bartter syndrome were analyzed retrospectively. Results among the 15 children, 14 (93.3%) had growth retardation, 12 (80.0%) had anorexia, 7 (46.7%) had vomiting, 5 (33.3%) had diarrhea, 5 (33.3%) had polyuria. There were 4 cases (26.7%) of asthenia. Among them, 10 cases were severe hypokalemia, 12 cases were metabolic alkalosis, 10 cases were classic Bartter syndrome, 3 cases were neonatal Bartter syndrome, 15 cases had hypochloremia and hypokalemia, 10 cases were severe hypokalemia, 12 cases were metabolic alkalosis, 10 cases were classic Bartter syndrome, 3 cases were neonatal Bartter syndrome. Two patients with variant Bartter syndrome (Gitelman syndrome) were treated with high dose potassium supplementation to correct water electrolyte acid-base balance disorder. After oral administration of spironolactone ibuprofen suspension and captopril the symptoms were basically controlled. Conclusion Children with persistent hypokalemic hypochloric metabolic alkalosis and delayed growth and development should be alert to the possibility of the disease. Combined with clinical manifestations and hydrochlorothiazide test, genetic diagnosis is the most reliable method. At present, potassium supplement, magnesium supplement, aldosterone antagonist, prostaglandin antagonist and so on are the main treatment.
【作者单位】：重庆医科大学附属儿童医院;
【分类号】：R725.9

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