儿童巴特综合征12例临床分析

目的 分析儿童巴特综合征(BS)的临床表现,进一步掌握BS的临床表现、诊断与分型、治疗和预后。方法 对12例BS患儿的临床资料进行回顾性分析,并复习国内外相关文献。结果 儿童BS在治疗前均有生长发育迟缓、消瘦,并常伴有呕吐、长期腹泻、烦渴、多尿等非特异性临床表现。12例BS患儿中首发症状为手足搐搦和抽搐各1例。实验室检查可见血肾素增高、血醛固酮增高、低血钾、低血钠、低血氯及代谢性碱中毒。经早期诊断及治疗,预后大部分良好,未坚持治疗患儿可致死亡。结论 儿童BS临床症状多样,但目前发病机制尚不明确,主要经补钾、补钠、补镁及吲哚美辛、安体舒通等联合治疗,坚持服药,大多预后良好。

The clinical diagnosis,treatment and prognosis analysis of 12 children with Bartter syndrome

Objective To analyze the clinical features of children with Bartter syndrome (BS),and to further master the clinical manifestations and classification,diagnosis,treatment and prognosis of BS. Methods The relevant literatures at home and abroadwere reviewed,and the clinical data of 12 children with BS were analyzed. Results Before treatment,children with Barttersyndromehad malnutrition and growth retardation,often accompanied by vomiting,chronic diarrhea,polydipsia,polyuria,and other non-specific clinical manifestations.Of the twelve cases of Bartter syndromethere was one case withtetany and another case with convulsions as first symptom.Laboratory examination showed high levels of renin and aldosterone,low blood potassium,sodium,and chlorine and metabolic acidosis.Afterearly diagnosis and treatment,the prognosis was mostly good.Stop of treatmentcould cause death. Conclusions Bartter syndrome had various clinical manifestations.Its pathogenesis is not clear,so the treatment methods mainly includesupplement of potassium,sodium,magnesium together with indomethacin and spironolactone.By taking medicationregularly,most patients have good prognosis.