Analysis of diagnostic characteristics of chronic granulomatous disease in children caused by a hemizygous mutation in CYBB gene
Ling Yaozheng1, Gao Man1, Xu Yanyue1, Ma Zhen1, Sun Bingyue1, Pei Zhichao2
1Department of Pediatric Respiratory Medicine, First Hospital of Jilin University, Changchun 130021, China； 2Zhejiang Provincial Center for Disease Control and Prevention, Hangzhou 310051, China
Abstract：ObjectiveTo explore the clinical diagnostic features of chronic granulomatous disease（CGD） caused by a hemizygous mutation in the CYBB gene. MethodsThe clinical data of a child with CGD admitted to the First Hospital of Jilin University on April 30, 2021, were analyzed retrospectively, and the clinical diagnostic characteristics were summarized based on literature. ResultsThe 11-year-old male patient was admitted with "intermittent fever for 22 days and double ankle pain for 5 days". The patient had a history of repeated respiratory tract infections for more than 10 years after birth, along with multiple history of infections such as skin furuncles, tuberculosis infection, liver abscess, and other infections, all of which improved after anti-infection treatment. Finally, the results of the genetic analysis proved that CGD was caused by a hemizygous mutation in the CYBB gene. ConclusionClinical physicians should be watchful for CGD in children who have had recurrent respiratory tract infections since infancy and should actively discover the etiology to improve the children′s prognosis as soon as possible.
