儿童囊性纤维化5例临床及影像表现

Clinical and radiological manifestations of 5 pediatric cases with cystic fibrosis

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。

Objective To explore the clinical manifestations and radiological features of cystic fibrosis （CF） in children. Methods The clinical and radiographic data of 5 CF patients were retrospectively analyzed. Results Among the 5 cases, there are 3 males and 2 females, aging from 2 to 13 years old （median age 6）. Four of the five cases had complaints of repeated productive cough with or without fever and short breath. Pseudomonas aeruginosa was positive in sputum culture of three cases. Chest CT showed pneumonia and bronchieetasis with peribronehial thickening and mucus plugging. Paranasal CT showed frontal sinus agenesis and sinusitis with sticky secretion. The other one of the 5 cases had a complaint of abnormal hepatic function. The abdominal MRI showed liver cirrhosis and high signal intensity in the periportal area on Tl-weighted imaging. Chest CT showed air trapping from small airways obstruction and bronchiectasis with sputum plugging. Five recurrent and two novel CFTR mutations were identified in all of the 5 cases. Conclusions The radiographic findings of CF are characteristic, and of great significance to the clinical diagnosis of CF. The gene mutations of CF in Chinese are different from those in Caucasians.