| 摘要: |
| 目的:总结NCF2 基因突变慢性肉芽肿病(CGD)患者的临床特征。方法:分析我院诊治的1 例NCF2 基因复合杂合突变
CGD 患儿的临床资料,并检索国内外文献,总结NCF2 基因突变引起的CGD 的起病、临床特征及预后特点。结果:以“NCF2”为
检索词,在国内外数据库共检索出180 例NCF2 基因突变CGD 病例。NCF2 基因突变导致的CGD 多在新生儿期起病,少部分起
病较晚(多见于复合杂合突变)。对于反复肺部感染,或者感染罕见病原的患者,即使既往体健,中性粒细胞吞噬功能正常,应
考虑到CGD 的可能。结论:临床对具有咯血、青春期、反复感染( 肺部影像学改变) 等特征的年长儿,需警惕先天性免疫缺陷
(IEI)中的CGD,应尽早完善基因检测,早期诊断,早期治疗,以改善预后。 |
| 关键词: 慢性肉芽肿病 NCF2 基因 青春期儿童 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2026.02.007 |
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| 基金项目: |
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| Chronic Granulomatous Disease with NCF2 Gene Mutation Onset by Hemoptysis in Adolescence: a CaseReport and Literature Review |
| Fang Juan, Cao Ling, Jiao Luyan, Zheng Baoying, Zhu Chunmei |
| (Capital Center for Children’s Health, Capital Medical
University, Beijing 100020, China) |
| Abstract: |
| Objective: To summarize the clinical characteristics of patients with chronic granulomatous disease (CGD) induced by
NCF2 gene mutations. Methods: Clinical data of a patient with CGD due to compound heterozygous mutation of NCF2 gene diagnosed
and treated in our hospital were analyzed. Domestic and foreign literature were retrieved to summarize the onset, clinical characteristics
and prognostic characteristics of CGD induced by NCF2 gene mutation. Results: A total of 180 cases of CGD with NCF2 gene mutation
were retrieved from domestic and foreign databases using “NCF2” as the search term. Most cases of CGD induced by NCF2 gene
mutation occurred in the neonatal period, while a small number had a later onset (more common in compound heterozygous mutations).
For patients with recurrent pulmonary infections or infections induced by rare pathogens, even if they were previously healthy and had
normal neutrophil phagocytic function, the possibility of CGD should be considered. Conclusion: For older children with characteristics
such as hemoptysis, adolescence, recurrent infections (changes in pulmonary imaging), clinicians should be vigilant of CGD in inborn
errors of immunity (IEI). Genetic testing should be performed as early as possible to achieve early diagnosis and treatment, thereby
improving the prognosis. |
| Key words: chronic granulomatous disease NCF2 gene adolescent children |
