以假性Bartter综合征为主要表现的囊性纤维化患儿3例并文献复习

张继燕; 孙林军; 段效军; 张子敏; 肖政辉; 陈艳萍; 游洁玉

doi:10.7499/j.issn.1008-8830.2310080

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中国当代儿科杂志 ›› 2024, Vol. 26 ›› Issue (5) : 506-511. DOI: 10.7499/j.issn.1008-8830.2310080

论著·临床研究

以假性Bartter综合征为主要表现的囊性纤维化患儿3例并文献复习

张继燕¹, 孙林军², 段效军¹, 张子敏³, 肖政辉⁴, 陈艳萍¹, 游洁玉⁵

作者信息 +

Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review

ZHANG Ji-Yan, SUN Lin-Jun, DUAN Xiao-Jun, ZHANG Zi-Min, XIAO Zheng-Hui, CHEN Yan-Ping, YOU Jie-Yu

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摘要

目的总结以假性Bartter综合征（pseudo-Bartter syndrome, PBS）为主要表现的囊性纤维化（cystic fibrosis, CF）（CF-PBS）患儿的临床特征和基因变异，以提高对CF-PBS的认识。方法回顾性分析2018年1月—2023年8月在湖南省儿童医院确诊的3例CF-PBS患儿的临床资料并文献复习。结果 3例患儿均在婴儿期起病，入院后检验示低钠、低钾、低氯血症和代谢性碱中毒，基因检测示CFTR基因存在复合杂合变异，均诊断为CF。文献检索33例CF-PBS中国患儿，起病年龄和诊断年龄分别为1~36月龄、3~144月龄，伴有反复呼吸道感染或持续肺炎29例（88%）、营养不良26例（79%）、发育落后23例（70%）、胰腺炎或可疑胰腺外分泌功能不全18例（55%）；c.2909G>A是CFTR基因最常见的变异位点，等位基因变异频率为23%（15/66）。结论 CF早期无典型的呼吸道症状，对于反复出现的低钠、低钾、低氯血症和代谢性碱中毒的婴儿，特别是同时存在营养不良、发育落后，需警惕CF-PBS可能，应尽早进行CFTR基因检测协助诊断CF。

Abstract

Objective To summarize the clinical characteristics and genetic variations in children with cystic fibrosis (CF) primarily presenting with pseudo-Bartter syndrome (CF-PBS), with the aim to enhance understanding of this disorder. Methods A retrospective analysis was performed on the clinical data of three children who were diagnosed with CF-PBS in Hunan Children's Hospital from January 2018 to August 2023, and a literature review was performed. Results All three children had the onset of the disease in infancy. Tests after admission showed hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis, and genetic testing showed the presence of compound heterozygous mutation in the CFTR gene. All three children were diagnosed with CF. Literature review obtained 33 Chinese children with CF-PBS, with an age of onset of 1-36 months and an age of diagnosis of 3-144 months. Among these children, there were 29 children with recurrent respiratory infection or persistent pneumonia (88%), 26 with malnutrition (79%), 23 with developmental retardation (70%), and 18 with pancreatitis or extrapancreatic insufficiency (55%). Genetic testing showed that c.2909G>A was the most common mutation site of the CFTR gene, with a frequency of allelic variation of 23% (15/66). Conclusions CF may have no typical respiratory symptoms in the early stage. The possibility of CF-PBS should be considered for infants with recurrent hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis, especially those with malnutrition and developmental retardation. CFTR genetic testing should be performed as soon as possible to help with the diagnosis of CF.

导出引用

张继燕, 孙林军, 段效军, 张子敏, 肖政辉, 陈艳萍, 游洁玉. 以假性Bartter综合征为主要表现的囊性纤维化患儿3例并文献复习[J]. 中国当代儿科杂志. 2024, 26(5): 506-511 https://doi.org/10.7499/j.issn.1008-8830.2310080

ZHANG Ji-Yan, SUN Lin-Jun, DUAN Xiao-Jun, ZHANG Zi-Min, XIAO Zheng-Hui, CHEN Yan-Ping, YOU Jie-Yu. Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(5): 506-511 https://doi.org/10.7499/j.issn.1008-8830.2310080

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