DNAH11基因突变致儿童反复肺部感染1例并文献复习  

Case report of a child with recurrent pulmonary infection induced by DNAH11 gene mutation and literature review

作　　者：张海涛 王玉 梁磊 袁丽萍[2] 胡波[2] 杨泽玉 ZHANG Hai-tao;WANG Yu;LIANG Lei;YUAN Li-ping;HU Bo;YANG Ze-yu(Children's Hospital of Anhui Province,Hefei,Anhui 230051,China;不详)

机构地区：[1]安徽省儿童医院呼吸科,安徽合肥230051 [2]安徽医科大学第一附属医院儿科,安徽合肥230022

出　　处：《中华医院感染学杂志》2023年第24期3785-3790,共6页Chinese Journal of Nosocomiology

基　　金：国家自然科学基金资助项目(81471617)。

摘　　要：目的 探讨因DNAH11基因突变引发原发性纤毛运动障碍(PCD)患儿导致反复肺炎的临床特点、呼吸道纤毛结构特征及治疗预后。方法 回顾性分析安徽省儿童医院呼吸科2021年8月收治的1例PCD合并肺炎患儿的诊疗经过,包括主要症状和体征、呼吸道病原学检测、影像学表现、透射电镜、基因检测结果及随访。为进一步总结DNAH11基因变异与呼吸道纤毛超微结构缺陷之间的关系,在文献数据库中检索DNAH11基因突变致病同时完善纤毛活检的中国PCD患儿资料。结果 该患儿有反复肺炎、支气管扩张及慢性鼻窦炎等特征性的临床表现,纤毛活检透射电镜下提示纤毛超微结构正常,全外显子测序发现位于7号染色体上的chr7:21920329和chr7:21939016两个位点的DNAH11基因出现致病性突变,诊断为PCD合并肺炎(肺炎链球菌)。急性期予以气道清廓和抗感染治疗,并定期随访。我国18例DNAH11基因突变致病PCD患儿的临床表型与其他基因型PCD无明显差别,电镜下纤毛超微结构均正常,部分患儿的纤毛运动功能受限。结论 DNAH11基因突变致病的患儿是PCD的一种特殊类型,其电镜下纤毛超微结构正常,根据患儿的反复肺炎临床特征及综合高速摄像电镜、基因检测等多种检查手段才能明确诊断。早期诊断后积极抗感染治疗,可以延缓疾病进展。OBJECTIVE To observe the clinical characteristics, the features of respiratory tract cilia and the treatment outcomes in a child with recurrent pneumonia caused by DNAH11 gene mutation-induced primary ciliary dyskinesia(PCD). METHODS The diagnosis and treatment of a child with PCD complicated with pneumonia admitted to the Department of Respiratory Medicine of Anhui Provincial Children′s Hospital in Aug 2021 were retrospectively analyzed, including main symptoms and signs, respiratory pathogen detection, imaging manifestations, transmission electron microscopy, genetic test results and follow-up. In order to further summarize the relationship between DNAH11 gene variation and respiratory ciliary ultrastructure defects, the data of Chinese children with PCD who had DNAH11 gene mutation and underwent ciliary biopsy were searched in the literature database. RESULTS The child was characterized by clinical manifestations such as recurrent pneumonia, bronchiectasis and chronic nasosinusitis. TEM showed normal ultrastructure of cilia. Pathogenic mutation of DNAH11 gene was found at chr7:21920329 and chr7:21939016 loci of chromosome 7 by exome sequencing and the child was diagnosed as PCD complicated with pneumonia( Streptococcus pneumoniae). Airway clearance and anti-infection therapy were administered during the acute stage, and regular follow-up was performed. There were no significant differences in the clinical phenotypes between the 18 Chinese children with DNAH11 gene mutation-induced PCD and the children with PCD induced by other genotypes. TEM displayed the normal ultrastructure of cilia, and some of the children had restricted cilia movement function. CONCLUSION DNAH11 gene mutation is rare among children with PCD. Ultrastructure of the cilia in the patients is normal under TEM, and definite diagnosis can only be made by the clinical features of recurrent pneumonia and multiple examination such as high-speed photography TEM and genetic test. Active anti-infection therapy should be administered in order to del

关 键 词：原发性纤毛运动障碍 透射电镜 基因检测 儿童 肺部感染 

分 类 号：R725.6[医药卫生—儿科]