Chu Yajuan, Shuai Jinfeng, Huang Kunling, Liu Jianhua, Lv Wenshan, Li Baochi
Department of Respiratory Medicine, Hebei Children's Hospital, Shijiazhuang, Hebei 050031, China.
Evid Based Complement Alternat Med. 2021 Nov 2;2021:7254391. doi: 10.1155/2021/7254391. eCollection 2021.
To explore the clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis (CF) so as to improve the understanding and diagnosis awareness of CF in children and reduce the missed diagnosis and misdiagnosis.
The clinical manifestations, imaging, and gene mutation data of six children with CF were collected and retrospectively analyzed.
Among the 6 cases of CF, there were 4 males and 2 females. Among the 6 children with CF, 5 cases presented with recurrent respiratory tract infection. Etiology suggested 3 cases of and 2 cases of . 3 cases had pancreatic exocrine dysfunction, manifested as diarrhea and aliphatic diarrhea, of which 1 case had high lipase in blood examination, and pancreatic ultrasound showed rough and enhanced pancreatic echo, considering pancreatic cystic fibrosis. 2 cases of CF combined with pseudo-Bartter syndrome (PBS); 1 case involved only the biliary tract and started with cholestasis without other systemic involvement. In 2 cases of sweat test, sweat chloride ions were all >60 mmol/L. 3 cases underwent fiberoptic bronchoscopy, and a large number of sticky secretions were visible under the bronchoscopy. CT of the chest revealed thickening of the bronchial wall (3 cases), bronchiectasis (1 case), atelectasis (1 case), and thin bronchial lumen (2 cases). 1 patient was found to have small airway lesions and mosaic perfusion during follow-up. All 6 children with CF underwent genetic testing. A total of 12 CF transmembrane conductance regulator (CFTR) gene mutations were found, of which 4 mutations were not reported in the literature.
CF is a disease caused by CFTR mutation. The incidence of this disease in China is low, and the clinical manifestations have great differences. The main symptoms are respiratory symptoms. Some children have gastrointestinal symptoms and/or PBS, and some children only show a single systemic lesion.
探讨6例儿童囊性纤维化（CF）的临床表现、影像学特征及基因突变特点，以提高对儿童CF的认识及诊断意识，减少漏诊和误诊。
收集6例CF患儿的临床表现、影像学及基因突变资料并进行回顾性分析。
6例CF患儿中，男4例，女2例。6例CF患儿中，5例表现为反复呼吸道感染。病因提示3例为[此处原文缺失相关病因信息]，2例为[此处原文缺失相关病因信息]。3例有胰腺外分泌功能障碍，表现为腹泻及脂肪泻，其中1例血淀粉酶升高，胰腺超声显示胰腺回声粗糙、增强，考虑胰腺囊性纤维化。2例CF合并假性巴特综合征（PBS）；1例仅累及胆道，以胆汁淤积起病，无其他全身受累表现。2例进行汗液试验，汗液氯离子均>60 mmol/L。3例进行纤维支气管镜检查，镜下可见大量黏稠分泌物。胸部CT显示支气管壁增厚（3例）、支气管扩张（1例）、肺不张（1例）及支气管腔狭窄（2例）。1例患儿随访中发现小气道病变及马赛克灌注。6例CF患儿均进行了基因检测。共发现12个CF跨膜传导调节因子（CFTR）基因突变，其中4个突变未见文献报道。
CF是由CFTR基因突变引起的疾病。该病在我国发病率低，临床表现差异大。主要症状为呼吸道症状。部分患儿有胃肠道症状和/或PBS，部分患儿仅表现为单一系统病变。
