Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2025, Vol. 21 ›› Issue (03): 366 -374. doi: 10.3877/cma.j.issn.1673-5250.2025.03.016

Special Issue:

Original Article

Cystic fibrosis in a child with pulmonary infection as the initial symptom: a case report and literature review

Hongli Yuan1,(), Yan Cheng2, Shuyu Wang3, Wei Li2, Yafei Tao1, Shihui Wang1   

  1. 1Department of Radiology, the 980th Hospital of the Joint Logistics Support Force, Shijiazhuang 050081, Hebei Province, China
    2Department of Laboratory Medicine, the 980th Hospital of the Joint Logistics Support Force, Shijiazhuang 050081, Hebei Province, China
    3Department of Pediatrics, the 980th Hospital of the Joint Logistics Support Force, Shijiazhuang 050081, Hebei Province, China
  • Received:2024-09-02 Revised:2025-05-12 Published:2025-06-01
  • Corresponding author: Hongli Yuan
  • Supported by:
    Medical Science Research Project Project of the Health Commission of Hebei Province(20220229)
Objective

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.

Methods

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).

Results

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%).

Conclusions

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.

图1 患儿1(男性,11岁)肺部CT图(图1A:主动脉弓上层横断面图,可见支气管扩张、管壁增厚;图1B:左心房横断面图,可见支气管腔内柱形黏液栓、双肺马赛克征;图1C:主肺动脉窗层横断面图,可见双肺外带树芽征;图1D:四腔心层横断面图,可见双肺多发实变)注:患儿1为囊性纤维化患儿
图2 患儿1(男性,11岁)纤维支气管镜检查图(图2A:气管隆突图,可见气管黏膜糜烂,气管内大量黄白色脓性分泌物;图2B:右上肺支气管图,可见管腔部分被分泌物堵塞,支气管黏膜充血坏死,脓性分泌物附着;图2C:右肺中间段支气管图,可见支气管黏膜充血水肿,脓性分泌物附着;图2D:右肺深部支气管图,可见支气管黏膜充血坏死,脓性分泌物附着)注:患儿1为囊性纤维化患儿
图3 患儿1(男性,11岁)肺泡灌洗液图片(图3A~3D:分别为患儿入院后第1~4次肺泡灌洗液图片,可见灌洗液呈黄绿色乳状浑浊,随着治疗病情好转,灌洗液颜色逐渐变浅、清澈)注:患儿1为囊性纤维化患儿
图4 患儿1(男性,11岁)及其父母CFTR基因Sanger测序图[图4A:患儿1及其母亲CFTR基因发生c.293A>G(p.Gln98Arg)杂合变异,其父亲该位点未发现变异(箭头所示为变异位点);图4B:患儿1及其父亲CFTR基因发生c.1409T>A(p.Va1470Glu)杂合变异,患儿1母亲该位点未发现变异(箭头所示为变异位点)]注:患儿1为囊性纤维化患儿
表1 患儿1(男性,11岁)基因检测结果
表2 本研究34例CF患儿临床资料比较
患儿编号 文献(第1作者,发表年) 性别 CF发病年龄 临床表现 肺部病原菌
1 本研究 11岁 BE、腹泻 铜绿假单胞菌
2 章伟[5],2023 13岁 BE、鼻窦炎、反复下呼吸道感染 铜绿假单胞菌
3 张娜[6],2022 7个月 RRTI、BE、呼吸衰竭、营养不良、腹泻 鲍曼不动杆菌、皮特不动杆菌、近平滑念珠菌
4 张娜[6],2022 8个月 RRTI、BE、营养不良、腹泻 金黄色葡萄球菌
5 张娜[6],2022 21个月 RRTI、BE、直肠脱垂、腹泻、脂肪泻 铜绿假单胞菌
6 张娜[6],2022 18个月 RRTI、BE、营养不良、腹泻、胰腺CF 铜绿假单胞菌
7 张娜[6],2022 4个月 RRTI、BE、鼻窦炎、营养不良、腹泻 金黄色葡萄球菌
8 张娜[6],2022 3个月 反复肺部感染、呼吸衰竭、BE、脂肪泻、腹泻 铜绿假单胞菌
9 张娜[6],2022 4岁 反复肺部感染、呼吸衰竭、BE、鼻窦炎、营养不良、腹泻 铜绿假单胞菌流感嗜血杆菌、鲍曼不动杆菌
10 张娜[6],2022 3个月 黄疸、肝功能异常、腹泻 未进行该项检查
11 曹旭阳[7],2022 10岁 BE、鼻窦炎、反复肺炎 草绿色链球菌
12 张继燕[8],2024 7个月 反复肺炎、反复呕吐、腹泻、营养不良、体重不增 阴性
13 张继燕[8],2024 6个月 呕吐、腹泻、体重不增、营养不良 流感嗜血杆菌
14 阳志超[10],2024 5岁 BE、鼻窦炎、肺炎 铜绿假单胞菌
15 阳志超[10],2024 13岁 BE、腹泻、脂肪泻 金黄色葡萄球菌
16 陈琼华[9],2021 6岁 BE、鼻窦炎、支气管肺炎、杵状指 金黄色葡萄球菌、铜绿假单胞菌
17 Ni[1],2022 10岁 BE、腹泻、肝硬化及肝、脾大 铜绿假单胞菌
18 Ni[1],2022 12岁 BE、血清肝转氨酶升高、腹泻及肝、脾大 草绿色链球菌
19 Ni[1],2022 11岁 BE、咯血、反复发作肺炎 铜绿假单胞菌
20 Liu[12],2020 11岁 BE、ABPA 铜绿假单胞菌
21 Liu[12],2020 14岁 胰腺功能不全、ABPA、腹泻、BE 金黄色葡萄球菌、铜绿假单胞菌
22 Liu[12],2020 4岁 胰腺功能不全、腹泻、BE、鼻窦炎 铜绿假单胞菌
23 Liu[12],2020 16岁 BE、鼻窦炎、鼻息肉、腹泻 铜绿假单胞菌
24 Liu[12],2020 12岁 腹泻、脂肪泻、鼻窦炎、BE 铜绿假单胞菌
25 Liu[12],2020 16岁 鼻窦炎、ABPA、BE、腹泻 铜绿假单胞菌
26 Sun[3],2024 8岁 BE、鼻窦炎、鼻息肉、反复发作肺炎、腹泻 铜绿假单胞菌
27 Sun[3],2024 3岁 BE、鼻窦炎、咯血、反复发作肺炎、腹泻 铜绿假单胞菌
28 Sun[3],2024 11岁 BE、鼻窦炎、反复发作肺炎、杵状指、腹泻 金黄色葡萄球菌、铜绿假单胞菌
29 Shen[11],2022 7岁 BE、ABPA、鼻窦炎、咯血、腹泻、脂肪泻、肝功能不全 铜绿假单胞菌
30 Shen[11],2022 13岁 BE、ABPA、咯血、鼻窦炎、鼻息肉、腹泻、脂肪泻、肝功能不全 金黄色葡萄球菌、铜绿假单胞菌
31 Shen[11],2022 8岁 BE、鼻窦炎、鼻息肉、腹泻 铜绿假单胞菌
32 Shen[11],2022 2岁 BE、鼻窦炎、腹泻、杵状指 铜绿假单胞菌
33 Shen[11],2022 12岁 BE、鼻窦炎、腹泻、脂肪泻、咯血 金黄色葡萄球菌
34 Shen[11],2022 7岁 BE、鼻窦炎、腹泻、脂肪泻、胰腺功能不全 铜绿假单胞菌
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