Cystic fibrosis in 2 children with Pseudomonas aeruginosa infection / 中华实用儿科临床杂志

ABSTRACT

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.