Abstract：
We present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected because of the low nasal nitric oxide level (20.7 nL/min). Electron microscopy revealed outer and inner dynein arm defects, and a genetic analysis identified a homozygous single-nucleotide deletion in the DNAAF1 gene. Based on these results, the patient was diagnosed with PCD due to a biallelic DNAAF1 mutation.
摘要：
我们介绍了一名58岁的原发性纤毛运动障碍（PCD）女性患者的病例。她的父母是近亲。41岁时进行的胸部计算机断层扫描显示没有位置倒置，支气管扩张的发现仅限于中叶和舌叶。尽管有长期的大环内酯治疗,经常发生支气管扩张加重。怀疑PCD是因为鼻一氧化氮水平低(20.7nL/min)。电子显微镜显示内外动力蛋白臂缺陷，遗传分析鉴定了DNAAF1基因中的纯合单核苷酸缺失。基于这些结果,由于双等位基因DNAAF1突变,患者被诊断为PCD.
