儿科药学杂志2026，Vol.32Issue(2)：29-31,3.DOI:10.13407/j.cnki.jpp.1672-108X.2026.02.007
1例NCF2基因突变慢性肉芽肿致青春期咯血首发合并感染的诊治实录
Chronic Granulomatous Disease with NCF2 Gene Mutation Onset by Hemoptysis in Adolescence:a Case Report and Literature Review
房娟 1曹玲 1焦路燕 1郑宝英 1朱春梅1
作者信息
- 1. 首都医科大学附属首都儿童医学中心,北京 100020
- 折叠
摘要
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.关键词
慢性肉芽肿病/NCF2基因/青春期儿童Key words
chronic granulomatous disease/NCF2 gene/adolescent children分类
医药卫生引用本文复制引用
房娟,曹玲,焦路燕,郑宝英,朱春梅..1例NCF2基因突变慢性肉芽肿致青春期咯血首发合并感染的诊治实录[J].儿科药学杂志,2026,32(2):29-31,3.
