Analysis on gene variation and clinical characteristics of seven children with cystic fibrosis
10.3760/cma.j.issn.1673-4912.2025.04.012
- VernacularTitle:七例囊性纤维化患儿基因及临床特征分析
- Author:
Qiannan ZHANG
1
;
Nan YANG
1
;
Xinrong SUN
1
Author Information
1. 西安市儿童医院呼吸科 710000
- Publication Type:Journal Article
- Keywords:
Cystic fibrosis;
Children;
Clinical features;
Gene mutation
- From:
Chinese Pediatric Emergency Medicine
2025;32(4):301-305
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics and gene variations of children with cystic fibrosis (CF), and to improve the understanding of pediatrician on CF.Methods:The data of 7 children with CF admitted to Xi'an Children 's Hospital from July 2018 to January 2024 were retrospectively analyzed. Results:The 7 patients (2 males and 5 females) were diagnosed at a median age of 3 years and 9 month(ranging from 1 year and 1 month to 10 years).The main clinical manifestations included recurrent respiratory tract infection (7 cases), bronchiectasis (3 cases), malnutrition (5 cases), steatosis (5 cases), false Bartter syndrome(2 cases), cirrhosis (1case),infantile vomiting (1 case),and meconium intestinal obstruction (1 case). A total of 14 mutation sites were found in 7 cases by whole exon sequencing and Sanger sequencing verification, including 7 missense mutations, 4 nonsenses mutations, 2 shear mutations, and 1 frameshift mutation which was a new mutation. After symptomatic treatment including anti-infection, chest physical therapy, hypertonic saline atomization, fat-soluble vitamin supplementation and pancreatic enzyme supplementation, the respiratory symptoms were controlled, the number of hospitalization due to respiratory infection was significantly reduced. However，the nutritional status of the 7 children did not reach the expected improvement.Conclusion:The clinical manifestations of CF are varied, among which recurrent respiratory tract infection, bronchiectasis and malnutrition are common.Timely targeted anti-infection and other symptomatic treatments can improve the prognosis. The compliance of the confirmed children with nutritional support is poor, and it is still necessary to strengthen the intervention of nutritional support.
