【摘要】：目的探討兒童Bartter綜合征的臨床表現(xiàn)、診斷及治療。方法回顧性分析15例Bartter綜合征患兒的臨床資料。結(jié)果 15例患兒中表現(xiàn)為生長發(fā)育遲滯14例(93.3%),納差12例(80.0%),嘔吐7例(46.7%),腹瀉5例(33.3%),多飲多尿5例(33.3%),乏力4例(26.7%)。15例患兒均有低氯血癥、低鉀血癥,其中重度低鉀血癥10例,12例患兒出現(xiàn)代謝性堿中毒。15例患兒中經(jīng)典型Bartter綜合征10例、新生兒型Bartter綜合征3例、變異型Bartter綜合征(Gitelman綜合征)2例。15例患兒均給予大劑量補(bǔ)鉀等糾正水電解質(zhì)酸堿平衡紊亂,口服螺內(nèi)酯、布洛芬懸液及卡托普利后,癥狀基本控制。結(jié)論兒童出現(xiàn)不明原因持續(xù)性低鉀低氯性代謝性堿中毒及生長發(fā)育遲滯時(shí)需警惕該病可能,結(jié)合臨床表現(xiàn)及氫氯噻嗪試驗(yàn)基本可診斷,基因診斷是最可靠的方法。目前主要以補(bǔ)鉀、補(bǔ)鎂、醛固酮拮抗劑、前列腺素拮抗劑等綜合治療為主,需終生治療。
[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.
【作者單位】： 重慶醫(yī)科大學(xué)附屬兒童醫(yī)院;
【分類號(hào)】：R725.9

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