婴儿囊性纤维化合并假性Bartter综合征1例并文献复习

Infantile cystic fibrosis complicated with pseudo Bartter syndrome:a case report and literature review

囊性纤维化是一种常染色体隐性遗传病,可引起外分泌腺体功能的异常,因可有多器官、多系统受累,故临床表现多样。本文整理1例婴儿囊性纤维化合并假性Bartter综合征病历资料中临床表现、基因型及诊断治疗,并复习相关文献。患儿男,6个月,因反复咳嗽5月余入院,生长发育落后于同龄儿,入院后出现低钠血症、低氯血症、代谢性碱中毒,汗氯试验:73 mmol/L(升高),明确2个囊性纤维化跨膜传导调节因子(CFTR)基因变异,分别是C.1116+1G>A(母源)及C.2909G>A(父源),与已有文献报道对比发现,该基因变异类型为首次报道。患儿明确诊断为囊性纤维化合并假性Bartter综合征,予以长期随访管理,发现预后良好。囊性纤维化患儿有合并假性Bartter综合征的可能,临床要注意检测囊性纤维化患儿的电解质及血气,并在随访管理中予以干预,以改善预后。

Cystic fibrosis is an autosomal recessive genetic disease,which can cause abnormal function of exocrine glands.It has diverse clinical manifestations due to the involvement of multiple organs and systems.This paper sortes out the clinical manifestations,genotypes,diagnosis and treatment of a case of infantile cystic fibrosis complicated with pseudo Bartter syndrome,and reviews related literatures.A 6-month-old boy admitted in hospital,because of repeated cough for more than 5 months,had growth and development lagged behind that of the same age,and developed hyponatremia,hypochloremia and metabolic alkalosis after admission.The children's sweat chlorine test showed 73 mmol/L(increased),and two cystic fibrosis transmembrane conductance regulator(CFTR)gene mutations were identified,which were C.1116+1G>A(maternal source)and C.2909G>A(paternal source),respectively.Compared with the existing literatures,these mutation types were the first report.The boy was definitely diagnosed as cystic fibrosis complicated with pseudo Bartter syndrome,and the prognosis was good after long term follow-up management.Children with cystic fibrosis may be complicated with pseudo Bartter syndrome;detection of electrolyte and blood gas in children with cystic fibrosis should be paid attention to in clinic,and intervention should be given in the follow-up management to improve the prognosis.