儿童囊性纤维化伴铜绿假单胞菌感染2例

Cystic fibrosis in 2 children with Pseudomonas aeruginosa infection

对2018年4月至2019年6月四川省人民医院儿科收治的2例感染铜绿假单胞菌囊性纤维化(CF)患儿资料进行分析。例1为11岁女童,既往无反复呼吸道感染史,首次痰培养发现铜绿假单胞菌,反复纤维支气管镜检查下可见大量黄白色分泌物附着,胸部CT示双肺支气管周围多发斑点影及树芽征。CFTR基因检测结果示3处杂合突变:c.2909G>A(chr7:117246728)、c.*133T>A (chr7:117307295)和c.*125delT(chr7:117307285);例2为7岁男童,既往有反复呼吸道感染史,父母为近亲结婚,痰液及支气管肺泡灌洗液多次培养均为铜绿假单胞菌,且胸部CT示双肺支气管扩张并炎症。基因检测:染色体位置chr7-117171059,c.380T>G纯合突变发病,导致氨基酸改变p.leu127stop(无义突变)。提示对于儿童感染铜绿假单胞菌,胸部CT示支气管扩张征象及纤维支气管镜下见大量分泌物应警惕CF,需及时完善基因检测,尽早明确诊断。

Clinical data of 2 children with cystic fibrosis(CF)and Pseudomonas aeruginosa infection in the Department of Pediatrics of Sichuan Provincial People′s Hospital from April 2018 to June 2019 were retrospectively analyzed.Patient 1 was an 11-year-old girl with no history of recurrent respiratory infections.Pseudomonas aeruginosa was found in the first sputum culture.A large number of yellow and white secretions were visible under repeated fiberoptic bronchoscopy.Chest CT showed multiple spots and tree-in-bud signs around the bronchi of both lungs.CFTR gene test results revealed 3 heterozygous mutations:c.2909G>A(chr7:117246728),c.*133T>A(chr7:117307295)and c.*125delT(chr7:117307285).The other patient was a 7-year-old boy with a history of recurrent respiratory infections.His parents were close relatives.Multiple cultures of sputum and bronchoalveolar lavage fluid of the boy were Pseudomonas aeruginosa,and chest CT suggested dilation and inflammation in bronchi of both lungs.Gene detection showed that the c.380T>G homozygous mutation at chromosome chr7-117171059 resulted in an amino acid change p.leu127stop(nonsense mutation).This article suggests that CF should be considered for Pseudomonas aeruginosa infected children having signs of bronchiectasis on chest CT and a large number of secretions under bronchoscopy.Besides,it is necessary for such kind of children to perform genetic testing in time to confirm the diagnosis as soon as possible.