假性Bartter综合征表现的囊性纤维化2例并文献复习  

Pseudo-Bartter syndrome in Chinese infants with cystic fibrosis and literature review:A report of 2 cases

作　　者：李志川[1] 鲍燕敏[1] 池巧梅[1] 王文建[1] 郑跃杰[1] 申昆玲[2] LI Zhi-chuan;BAO Yan-min;CHI Qiao-mei;ZHENG Yue-jie(Department of Respiratory Medicine,Shenzhen Children’s Hospital,Shenzhen 518026,China)

机构地区：[1]深圳市儿童医院呼吸科,广东深圳518026 [2]首都医科大学附属北京儿童医院呼吸科,北京100045

出　　处：《中国实用儿科杂志》2020年第2期147-151,共5页Chinese Journal of Practical Pediatrics

摘　　要：目的总结两例假性Bartter综合征(pseudo-Bartter syndrome,PBS)表现的囊性纤维化的临床特点并文献复习。方法回顾性分析2017-2018年在深圳市儿童医院呼吸科确诊的2例囊性纤维化患儿的临床资料,总结合并PBS表现的囊性纤维化的临床特点并复习相关文献。结果例1男,1岁;例2男,7个月;均有慢性咳嗽表现,都有间断发作性频繁呕吐,合并有低钠、低钾、低氯血症和代谢性碱中毒,呈PBS表现,其中例1反复发作PBS2次,常年脂肪泻,汗液试验氯离子浓度102 mmol/L,采用二代测序方法证实患儿存在CFTR基因复合杂合突变(c.1423delC/c.1657C>T),并且分别来源于父母亲;例2反复发作PBS 5次,汗液试验氯离子浓度91 mmol/L和97 mmol/L,采用二代测序方法证实患儿存在CFTR基因复合杂合突变(c.595C>T/c.95T>G),并且分别来源于父母亲,均确诊囊性纤维化。文献回顾发现我国合并假性Bartter综合征的囊性纤维化患者共有11例,均同时有营养不良,10例有慢性或反复呼吸道感染,2例有慢性腹泻,大部分病例(9/11)发生在我国南方和沿海气候温暖地区,确诊年龄中位数是11月龄。结论在中国,对有假性Bartter综合征表现的患儿,伴慢性呼吸道感染时需警惕囊性纤维化,应及早行汗液试验和CFTR基因检测进一步明确诊断。Objective To summarize the clinical features of two cases of cystic fibrosis with pseudo-Bartter syndrome and review the literature. Methods The clinical data of two cases of cystic fibrosis diagnosed in Department of Respiratory Medicine of Shenzhen Children’s Hospital from 2017 to 2018 were analyzed retrospectively. The clinical features of cystic fibrosis manifested in two cases of pseudo-Barter syndrome were reviewed and the related literature was reviewed.Results Case 1,Male,one year old;Case 2,male,seven months old;They were repeatedly coughing and sputum at 2 months of age,accompanied by intermittent episodes of frequent vomiting,manifested as hyponatremia,hypokalemia,hypochloremia and metabolic alkalosis,presenting with pseudo-Bartter syndrome. Case 1 repeated 2 times,perennial steatorrhea,sweat test revealed elevated chlorid 102 mmol/L,the second generation sequencing confirmed the presence of CFTR gene complex heterozygous mutation(c.1423 delC/c.1657 C>T),which derived respectively from her parents;Case 2 repeated 5 times,sweat test revealed elevated chlorid 91 mmol/L and 97 mmol/L,the second generation sequencing confirmed the presence of CFTR gene complex heterozygous mutation(c.595 C>T/c.95 T>G),which derived respectively from her parents,were diagnosed with cystic fibrosis both. Literature review found that there were 11 cases of cystic fibrosis in patients with pseudo-Bartter syndrome in China,all of which were malnourished,10 had chronic or repeated respiratory infections,2 had chronic diarrhea,and most cases(9/11)occurred in the southern China and coastal areas,the median age of diagnosis was 11 months. Conclusion Chinese children with pseudo-Bartter syndrome should be alert to cystic fibrosis when they have chronic respiratory tract infection. Sweat test and CFTR genetic analysis should be performed to confirm the diagnosis.

关 键 词：假性Bartter综合征 囊性纤维化 代谢性碱中毒 

分 类 号：R72[医药卫生—儿科]