Respiratory Department, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Pediatr Pulmonol. 2023 Oct;58(10):2865-2870. doi: 10.1002/ppul.26601. Epub 2023 Jul 21.
Despite the growing awareness of cystic fibrosis (CF) in China, few cases have been reported in Henan, which is the most populous province in the country. This study aimed to describe the clinical phenotype and genotype of children with CF in Henan.
We retrospectively recruited 18 Chinese children with CF who presented to Children's Hospital affiliated to Zhengzhou University from January 2019 to June 2023. The demographic data, imaging examinations, and laboratory tests of the patients were reviewed to clarify the clinical phenotype. Whole exome sequencing was conducted to identify the genotype.
Respiratory diseases were the main clinical manifestation, including recurrent/persistent pneumonia (88.9%), sinusitis (77.8%), bronchiectasis (77.8%). CF-related liver disease and pancreatic insufficiency were less common. Infant cases had high frequency of pseudo-Bartter Syndrome (80.0%). Chest computed tomography showed bronchiectasis in older children and air trapping in infant cases. The most common pathogens in the airway were Pseudomonas aeruginosa (72.2%) and Staphylococcus aureus (66.7%). Twenty-five different cystic fibrosis transmembrane conductance regulator (CFTR) gene variants were detected, including five novel observations (c.1064C>G[p. Pro355Arg], c.1209+1G>C, c.1925C>G[p. Ser642X], c.2810T>G[p. Leu937Arg], and c.3792delA[p. Gly1265GlufsX13]). The most common variant was c.2909G>A(p. Gly970Asp), with a detected rate of 21.9%.
Children with CF in Henan had varied clinical phenotypes by age, with respiratory disease being predominant. The most frequent CFTR gene variant was c.2909G>A(p. Gly970Asp). This study is the first and most comprehensive one on the clinical phenotype and genotype of children with CF in Henan, China. We also reported the first CF case of Mycobacterium abscessus infection in China.
尽管囊性纤维化（CF）在中国的认知度不断提高，但在人口最多的河南省，报告的病例却很少。本研究旨在描述河南地区 CF 患儿的临床表型和基因型。
我们回顾性招募了自 2019 年 1 月至 2023 年 6 月在郑州大学附属儿童医院就诊的 18 例 CF 患儿。对患者的人口统计学数据、影像学检查和实验室检查进行了回顾，以明确临床表型。进行全外显子组测序以确定基因型。
呼吸系统疾病是主要的临床表现，包括反复/持续性肺炎（88.9%）、鼻窦炎（77.8%）、支气管扩张症（77.8%）。CF 相关的肝病和胰腺功能不全则较少见。婴儿病例假性巴特综合征的发生率较高（80.0%）。胸部 CT 显示年长儿有支气管扩张，婴儿有空气潴留。气道中最常见的病原体是铜绿假单胞菌（72.2%）和金黄色葡萄球菌（66.7%）。共检测到 25 种不同的囊性纤维化跨膜电导调节因子（CFTR）基因突变，包括 5 种新观察到的突变（c.1064C>G[p.Pro355Arg]，c.1209+1G>C，c.1925C>G[p.Ser642X]，c.2810T>G[p.Leu937Arg]和 c.3792delA[p.Gly1265GlufsX13]）。最常见的变异是 c.2909G>A（p.Gly970Asp），检出率为 21.9%。
河南地区 CF 患儿的临床表型因年龄而异，以呼吸系统疾病为主。最常见的 CFTR 基因突变是 c.2909G>A（p.Gly970Asp）。本研究是中国河南省 CF 患儿临床表型和基因型的首例也是最全面的研究，同时报告了中国首例脓肿分枝杆菌感染的 CF 病例。
