儿童囊性纤维化5例临床及影像表现
发布时间：2019-01-25 08:14
【摘要】：目的探讨儿童囊性纤维化的临床及影像表现。方法回顾分析5例囊性纤维化患儿的临床及影像资料。结果5例患儿中,男3例、女2例,中位年龄6岁(2~13岁)。4例表现为反复咳嗽、咳痰,伴或不伴发热、气促;胸部CT均提示肺炎、支气管扩张伴支气管壁增厚、黏液嵌塞;鼻窦CT提示鼻窦炎、窦腔内密度异常增高,额窦发育不全,其中3例痰培养示铜绿假单胞菌感染。1例表现肝功能异常1年,腹部MRI示肝硬化、门脉周围组织T1WI呈高信号,胸部CT提示小气道阻塞造成空气潴留、支气管扩张伴黏液嵌塞。基因检测5例均有基因突变,共发现7个CFTR突变基因,其中2个为新发突变。结论囊性纤维化的影像表现具有一定特征,对临床诊断具有重要提示意义;中国人囊性纤维化基因突变位点与高加索人有一定差异。
[Abstract]:Objective to investigate the clinical and imaging manifestations of cystic fibrosis in children. Methods the clinical and imaging data of 5 children with cystic fibrosis were retrospectively analyzed. Results there were 3 males and 2 females with median age of 6 years (2 years old), 4 cases with recurrent cough, expectoration, fever, shortness of breath, chest CT indicating pneumonia, bronchiectasis with bronchial wall thickening, mucus impaction; CT showed sinusitis, abnormal density in sinus cavity and dysplasia of frontal sinus. Among them, 3 cases showed pseudomonas aeruginosa infection in sputum culture, 1 case showed abnormal liver function for 1 year, abdominal MRI showed cirrhosis, and T1WI in periportal tissue was hyperintense. Chest CT showed that small airway obstruction caused air retention, bronchiectasis with mucus impaction. Gene mutations were detected in all 5 cases, and 7 CFTR mutations were found, 2 of which were new mutations. Conclusion the imaging findings of cystic fibrosis have some characteristics and have important implications for clinical diagnosis, and the mutation loci of cystic fibrosis gene in Chinese are different from those in Caucasians.
【作者单位】： 上海交通大学医学院附属上海儿童医学中心;上海交通大学医学院;
【分类号】：R725.9
[Abstract]:Objective to investigate the clinical and imaging manifestations of cystic fibrosis in children. Methods the clinical and imaging data of 5 children with cystic fibrosis were retrospectively analyzed. Results there were 3 males and 2 females with median age of 6 years (2 years old), 4 cases with recurrent cough, expectoration, fever, shortness of breath, chest CT indicating pneumonia, bronchiectasis with bronchial wall thickening, mucus impaction; CT showed sinusitis, abnormal density in sinus cavity and dysplasia of frontal sinus. Among them, 3 cases showed pseudomonas aeruginosa infection in sputum culture, 1 case showed abnormal liver function for 1 year, abdominal MRI showed cirrhosis, and T1WI in periportal tissue was hyperintense. Chest CT showed that small airway obstruction caused air retention, bronchiectasis with mucus impaction. Gene mutations were detected in all 5 cases, and 7 CFTR mutations were found, 2 of which were new mutations. Conclusion the imaging findings of cystic fibrosis have some characteristics and have important implications for clinical diagnosis, and the mutation loci of cystic fibrosis gene in Chinese are different from those in Caucasians.
【作者单位】： 上海交通大学医学院附属上海儿童医学中心;上海交通大学医学院;
【分类号】：R725.9
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