DNAH5基因突变致儿童原发性纤毛运动障碍一例报告及文献复习

Primary ciliary dyskinesia in children caused by DNAH5 gene mutation:a case report and literature review

目的:探讨原发性纤毛运动障碍(PCD)的临床特征、基因突变情况和诊治要点。方法:回顾分析1例PCD患儿的临床表现,实验室检查、影像学检查、基因检测结果和家系相关情况等,总结PCD的临床诊断与治疗。结果:患儿,女,12岁6个月,2 a前出现反复咳嗽、咳痰,经抗感染及中药口服治疗效果不佳。近半个月来症状加重。肺部CT示:双肺多发支气管扩张合并感染;双侧胸膜增厚粘连。电子支气管镜示:支气管扩张;支气管内膜炎。全外显子测序基因检测发现患儿及其弟弟、妹妹DNAH5基因杂合突变:63号外显子c.10616G>A(p.R3539H)和61号外显子c.10363G>T(p.Q3455*),分别来源于母亲和父亲,c.10616G>A为已知致病突变,c.10363G>T为新发突变,未见文献报道。结论:PCD临床表现多样,治疗主要为抗感染和对症支持。本研究报道了一种新的致PCD的DNAH5基因杂合突变。

Aim:To analyze the clinical features,gene mutation,and main points of diagnosis and treatment of primary ciliary dyskinesia(PCD).Methods:The clinical manifestation,laboratory examination,imaging examination,genetic test results and family related information of a child with PCD were analyzed retrospectively,and the main points of clinical diagnosis and treatment of PCD were summarized.Results:The child,female,12 years and 6 months old,had recurrent cough and expectoration two years ago.The effects of anti-infection and oral Chinese medicine treatment were poor.The symptoms went worse in the last half month.Pulmonary CT showed multiple bronchiectasis with infection in both lungs;bilateral pleural thickening and adhesion.Electronic bronchoscopy showed bronchiectasis and endobronchial inflammation.Whole exon sequencing and genetic test revealed that the heterozygous mutations in DNAH5 gene of the child and her brother and sister[exon 63 c.10616G>A(p.R3539H)and exon 61 c.10363G>T(p.Q3455*)]were derived from her mother and father,respectively.And c.10363G>T was a novel mutation.Conclusion:The clinical manifestations of PCD are diverse,and the main treatments are anti-infection and symptomatic support.This study reports a novel heterozygous mutation of DNAH5 gene causing PCD,which provides an important basis for genetic counseling.