探讨以肺部感染为首发症状的囊性纤维化(CF)患儿的临床表现及基因变异类型，并进行相关文献复习。

选择2023年3月联勤保障部队第九八〇医院收治的1例以肺部感染为首发症状的CF患儿(患儿1)为研究对象。采用回顾性分析方法，对患儿1的临床病例资料，包括病史、临床表现及实验室、肺部CT、基因检测结果，以及诊治过程等进行分析。对国内外报道的中国籍CF患儿相关研究文献进行复习，总结CF患儿临床特点。本研究遵循的程序符合联勤保障部队第九八〇医院伦理委员会制定的标准，并获得该伦理委员会批准(批准文号：2023-KY-201)。

①患儿1为男性，11岁，因"发热、咳嗽3～4 d，腹泻2 d"于本院就诊。肺部CT结果显示，支气管扩张、壁增厚，部分支气管腔内可见黏液栓，合并肺内炎性病变。痰、肺泡灌洗液病原菌培养结果均提示铜绿假单胞菌呈阳性。基因检测结果显示，CFTR基因发生c.293A>G(p.Gln98Arg)与c.1409T>A(p.Va1470Glu)复合杂合错义变异，分别遗传自其父、母，根据美国医学遗传学与基因组学学会(ACMG)指南，分别被判断为致病性变异与疑似致病性变异。根据基因检测结果，患儿1最终被确诊为CF患儿。采取清除呼吸道分泌物、控制感染治疗，入院后第29天复查肺部CT显示肺内炎症病灶明显好转，第30天顺利出院。②文献复习结果：根据本研究设定的文献检索策略，检索到国内外报道的关于中国籍CF患儿相关研究文献10篇，涉及33例CF患儿，加上本研究患儿1，共计34例CF患儿纳入研究。这34例患儿中，男、女性患儿分别为21、13例，发病年龄为3个月至16岁，临床表现以支气管扩张为主(31例，91.2%)，多合并腹泻(28例，82.4%)，鼻窦炎(19例，55.9%)与呼吸道感染(16例，47.1%)，肺部最常见病原菌为铜绿假单胞菌(24例，70.6%)。

国内CF患儿临床表现多样，临床对于支气管扩张合并反复呼吸道感染，合并或未合并消化、生殖系统等其他系统疾病，以及呼吸道病原学检测提示铜绿假单胞菌呈阳性患儿，需警惕CF可能，应尽早对其进行CFTR基因检测予以明确诊断。

To explore the clinical manifestations and genetic variation types of cystic fibrosis (CF) children with pulmonary infection as the initial symptom, and to review relevant literature to provide reference for early clinical diagnosis of CF children.

A case of CF child (child 1) with pulmonary infection as the first symptom admitted to the 980th Hospital of the Joint Logistics Support Force in March 2023 was selected as the research subject. Retrospective analysis method was used to analyze the clinical case data of child 1, including medical history, clinical manifestations and laboratory tests, lung CT examination results, genetic testing results, diagnosis and treatment process. The relevant research literature on Chinese children with CF both domestically and internationally was reviewed to summarize the clinical characteristics of CF children. The procedures followed in this study were in accordance with the standards established by the Ethics Committee of the 980th Hospital of the Joint Logistics Support Force and have been approved by the Ethics Committee (Approval No. 2023-KY-201).

①Child 1 was an 11-year-old male who visited our hospital due to " fever, cough for 3-4 days, and diarrhea for 2 days". CT scan of the lungs showed bronchiectasis, wall thickening, and mucus plugs in some bronchial tubes, accompanied by inflammatory lesions in the lungs. The culture results of pathogenic bacteria in sputum and bronchoalveolar lavage fluid both indicated positivity for Pseudomonas aeruginosa. The genetic testing results showed that the CFTR gene of child 1 developed compound heterozygous missense mutations c. 293A>G (p.Gln98Arg) and c. 1409T>A (p.Va1470Glu), which were inherited from his father and mother, respectively. According to the guidelines of the American Society for Medical Genetics and Genomics (ACMG), and they were classified as pathogenic and suspected pathogenic variants, respectively according to the American College of Medical Genetics and Genomics (ACMG) guidelines. According to the results of genetic testing, child 1 was diagnosed with CF. He was treated with clearing airway secretions and controlling infections. On the 29th day after admission, a CT scan of the lungs showed significant improvement in the inflammatory lesions in the lungs, and child 1 was discharged on the 30th day after admission. ②Literature review results: according to the literature retrieval strategy set in this study, 10 relevant studies on Chinese children with CF were retrieved from both domestic and foreign databases, involving 33 Chinese children with CF. Including child 1 in this study, a total of 34 Chinese children with CF were identified. Among these 34 cases, there were 21 male and 13 female patients, with onset ages ranging from 3 months to 16 years old. The main clinical manifestations were bronchiectasis (31 cases, 91.2%), often complicated by diarrhea (28 cases, 82.4%), sinusitis (19 cases, 55.9%), and respiratory tract infection (16 cases, 47.1%). The most common pathogen of lung infection was Pseudomonas aeruginosa (24 cases, 70.6%).

Chinese children with CF have diverse clinical manifestations. For those with bronchiectasis and recurrent respiratory infections, combined or not with other systemic diseases such as digestive and reproductive systems, as well as those with positive results for Pseudomonas aeruginosa in respiratory pathogen testing, it is important to be alert to the possibility of CF and undergo CFTR gene testing as soon as possible for a clear diagnosis.