兒童囊性纖維化5例臨床及影像表現(xiàn)
發(fā)布時(shí)間：2019-01-25 08:14
【摘要】：目的探討兒童囊性纖維化的臨床及影像表現(xiàn)。方法回顧分析5例囊性纖維化患兒的臨床及影像資料。結(jié)果5例患兒中,男3例、女2例,中位年齡6歲(2~13歲)。4例表現(xiàn)為反復(fù)咳嗽、咳痰,伴或不伴發(fā)熱、氣促;胸部CT均提示肺炎、支氣管擴(kuò)張伴支氣管壁增厚、黏液嵌塞;鼻竇CT提示鼻竇炎、竇腔內(nèi)密度異常增高,額竇發(fā)育不全,其中3例痰培養(yǎng)示銅綠假單胞菌感染。1例表現(xiàn)肝功能異常1年,腹部MRI示肝硬化、門脈周圍組織T1WI呈高信號(hào),胸部CT提示小氣道阻塞造成空氣潴留、支氣管擴(kuò)張伴黏液嵌塞�；驒z測5例均有基因突變,共發(fā)現(xiàn)7個(gè)CFTR突變基因,其中2個(gè)為新發(fā)突變。結(jié)論囊性纖維化的影像表現(xiàn)具有一定特征,對臨床診斷具有重要提示意義;中國人囊性纖維化基因突變位點(diǎn)與高加索人有一定差異。
[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.
【作者單位】： 上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;上海交通大學(xué)醫(yī)學(xué)院;
【分類號(hào)】：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.
【作者單位】： 上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;上海交通大學(xué)醫(yī)學(xué)院;
【分類號(hào)】：R725.9
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