七例囊性纤维化患儿基因及临床特征分析  

Analysis on gene variation and clinical characteristics of seven children with cystic fibrosis

作　　者：张倩楠 杨楠 孙欣荣[1] Zhang Qiannan;Yang Nan;Sun Xinrong(Department of Respiratory Medicine,Xi'an Children's Hospital,Xi'an 710000,China)

机构地区：[1]西安市儿童医院呼吸科,710000

出　　处：《中国小儿急救医学》2025年第4期301-305,共5页Chinese Pediatric Emergency Medicine

摘　　要：目的分析囊性纤维化(CF)患儿的临床特点及基因突变位点,提高儿科医生对CF的认识。方法回顾性分析2018年7月至2024年1月就诊于西安市儿童医院的7例CF患儿的临床表现、基因测序结果、诊断及治疗情况。结果7例患儿中,男2例,女5例,确诊年龄中位数为3岁9个月(范围:1岁1个月~10岁)。主要临床表现为反复呼吸道感染(7例)、支气管扩张(3例)、营养不良(5例)、脂肪泻(4例)、假性Bartter综合征(2例)、肝硬化(1例)、婴儿期呕吐(1例)、胎粪性肠梗阻(1例)。7例患儿经全外显子测序和Sanger测序验证共发现14个变异位点,7个为错义变异,4个为无义变异,2个为剪切变异,1个为移码变异,该变异为新变异。7例患儿经抗感染、胸部物理治疗、高渗盐水雾化、补充脂溶性维生素及按需补充胰酶等对症治疗后,呼吸道症状得到控制,住院次数明显减少,但营养状况均未达到预期水平。结论CF临床表现多样,其中反复呼吸道感染、支气管扩张及营养不良常见,及时给予针对性抗感染等对症治疗可改善预后。确诊患儿对于营养支持依从性较差,仍需加强干预。Objective To analyze the clinical characteristics and gene variations of children with cystic fibrosis(CF),and to improve the understanding of pediatrician on CF.Methods The data of 7 children with CF admitted to Xi'an Children's Hospital from July 2018 to January 2024 were retrospectively analyzed.Results The 7 patients(2 males and 5 females)were diagnosed at a median age of 3 years and 9 month(ranging from 1 year and 1 month to 10 years).The main clinical manifestations included recurrent respiratory tract infection(7 cases),bronchiectasis(3 cases),malnutrition(5 cases),steatosis(5 cases),false Bartter syndrome(2 cases),cirrhosis(1case),infantile vomiting(1 case),and meconium intestinal obstruction(1 case).A total of 14 mutation sites were found in 7 cases by whole exon sequencing and Sanger sequencing verification,including 7 missense mutations,4 nonsenses mutations,2 shear mutations,and 1 frameshift mutation which was a new mutation.After symptomatic treatment including anti-infection,chest physical therapy,hypertonic saline atomization,fat-soluble vitamin supplementation and pancreatic enzyme supplementation,the respiratory symptoms were controlled,the number of hospitalization due to respiratory infection was significantly reduced.However,the nutritional status of the 7 children did not reach the expected improvement.Conclusion The clinical manifestations of CF are varied,among which recurrent respiratory tract infection,bronchiectasis and malnutrition are common.Timely targeted anti-infection and other symptomatic treatments can improve the prognosis.The compliance of the confirmed children with nutritional support is poor,and it is still necessary to strengthen the intervention of nutritional support.

关 键 词：囊性纤维化 儿童 临床特征 基因突变 

分 类 号：R725.6[医药卫生—儿科]