原发性纤毛不动综合征诊断方法研究进展.PDFVIP

· 388 · 临床儿科杂志第 34 卷第 5 期 2016 年 5 月J Clin Pediatr Vol.34 No.5 May 2016 doi:10.3969 j.issn.1000-3606.2016.05.017 ·文献综述· 原发性纤毛不动综合征诊断方法研究进展 刘 娇综述 刘恩梅 邓 昱审校 重庆医科大学附属儿童医院呼吸科（重庆 400014 ） 摘要： 原发性纤毛不动综合征是一种常染色体隐性遗传或X 染色体相关的遗传疾病，国外发病率为1∶50 000 ~ 1∶10 000，国内尚无相关流行病学资料。该病发生机制为纤毛的双等位基因突变，导致组织器官的结构和/ 或功能改变，从 而引起一系列相关临床表现，其中约50% 为Kartagener 综合征。目前常用的检查方法有鼻呼出气一氧化氮检测、透射电镜 法、免疫荧光分析法、高频数字视频成像和基因诊断，但每种检查方法均有其优点及弊端。同时，统一的诊断思路及确切有 效的治疗方案也处于探索研究阶段。 关键词： 原发性纤毛不动综合征； 基因突变； 诊断 Recent advances of diagnostic approaches in primary ciliary dyskinesia Reviewer: LIU Jiao, Reviser: LIU Enmei, DENG Yu (Department of Respiration, Children’s Hospital Affiliated to Chongqing Medical University, Chongqing 400014, China) Abstract: Primary ciliary dyskinesia (PCD) is an autosomal recessive or x-linked disorder of cilia structure and (or) function, with a morbidity of 1:10 000–1:50 000 from foreign reports, while epidemic data of PCD in China is not available yet. PCD is due to cilia biallelic gene mutations leading to impaired tissue structure and organ function. Clinical phenotypes include chronic infections of the respiratory tract, fertility problems, disorders of organ laterality, etc, and the percent age of Kartagener syndrome is about 50%. The frequently used diagnostic methods are nasal NO examination, high-speed video microscopy, electron microscopy, genetic tests, chest high-resolution computed tomography and spirometry at present. Each method has its highlights and disadvantages, meanwhile, effective diagnostic algorithm and therapeutic protocols are needed for further research. Key words: primary ciliary dyskinesia; gene mutation; diagnosis 原发性纤毛不动综合征（primary ciliary dyskinesia ， （microtubule doublets ，MTD ）环绕1对中央微管（central PCD ，OMIM id: