背景:为了分析临床和影像学特征,患有DNAH5双等位基因杂合突变的原发性纤毛运动障碍(PCD)男孩的纤毛结构和家族基因突变位点。
方法:先证者和亲属的临床资料。电子支气管镜检查,进行纤毛的透射电子显微镜(TEM)和下一代测序(NGS)。搜索PCD相关DNAH5外显子突变位点。
方法:一名10岁10个月大的男孩因反复咳嗽住院,咳痰,活动超过7年的痰和呼吸急促,加重1周。“在双侧肺检测到中度和精细的湿啰音。观察到拇指和脚趾。在当地医院,他被诊断为肺炎支原体感染,并培养了肺炎链球菌。
方法:肺功能检测显示混合通气功能障碍,支气管扩张试验阳性。影像学检查和纤维支气管镜检查显示所有内脏移位,双侧肺炎,还有支气管扩张.TEM没有检测到外部动力蛋白臂的损失。NGS鉴定出2个突变(c.4360C>T,c.9346C>T)在从健康父母遗传的DNAH5基因中。
结果:根据截至2022年的文献综述,在引起氨基酸变化的144个外显子基因突变中,C>T突变在44例中最为常见,30例缺失突变。在基因突变引起的氨基酸变化中,在89例中发现了终止突变。
结论:对于疑似PCD患者,应进行TEM和NGS。及时诊断和治疗可延缓支气管扩张的发生,改善临床预后。
BACKGROUND: To analyze clinical and imaging features, ciliary structure and family gene mutation loci of a primary ciliary dyskinesia (PCD) boy with a dual-allele heterozygous mutation of DNAH5.
METHODS: Clinical data of the proband and relatives. Electronic bronchoscopy, transmission electron microscope (TEM) of the cilia and next-generation sequencing (NGS) were performed. PCD-related DNAH5 exon mutation sites were searched.
METHODS: A 10-year and 10-month-old boy was hospitalized due to \"recurrent cough, expectoration, sputum and shortness of breathing after activity for over 7 years, and aggravated for 1 week.\" Moderate and fine wet rales were detected in bilateral lungs. Clubbing fingers and toes were observed. In local hospitals, he was diagnosed with Mycoplasma pneumoniae infection and Streptococcus pneumoniae was cultured.
METHODS: Pulmonary function testing showed mixed ventilation dysfunction and positive for bronchial dilation test. Imaging examination and fiberoptic bronchoscopy revealed transposition of all viscera, bilateral pneumonia, and bronchiectasis. TEM detected no loss of the outer dynein arms. NGS identified 2 mutations (c.4360C>T, c.9346C>T) in the DNAH5 gene inherited from healthy parents.
RESULTS: According to literature review until 2022, among 144 exon gene mutations causing amino acid changes, C>T mutation is the most common in 44 cases, followed by deletion mutations in 30 cases. Among the amino acid changes induced by gene mutation, terminated mutations were identified in 89 cases.
CONCLUSIONS: For suspected PCD patients, TEM and NGS should be performed. Prompt diagnosis and treatment may delay the incidence of bronchiectasis and improve clinical prognosis.