Wang K, Chen X, Guo C Y, Liu F Q, Wang J R, Sun L F
Division of Pediatric Palmonology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, China.
Zhonghua Er Ke Za Zhi. 2018 Feb 2;56(2):134-137. doi: 10.3760/cma.j.issn.0578-1310.2018.02.012.
To analyze the clinical manifestations, cilia ultrastructure and gene variations of primary ciliary dyskinesia (PCD). Analysis of three cases diagnosed as PCD by transmission electron microscopy of the endobronchial biopsy material in Division of Pediatric Pulmonology of Shandong Provincial Hospital between 2013 and 2016. Target gene sequence capture and next generation sequencing were used to analyze the gene. Related literatures on gene variation of PCD in Chinese were reviewed from Online Mendelian Inheritance in Man, Human Gene Mutation Database, PubMed and CNKI up to July 2017 by using search terms of "PCD" , "gene" , "Chinese". There were one male and two females aged from 10 to 11 years. The common symptoms included recurrent respiratory infection, sinusitis and bronchiectasis. Two of them had situs inversus. Case 1 had lack of outer and inner dynein arms with compound heterozygous mutation of LRRC6. Case 2 had outer and inner dynein arms defects with heterozygous mutations of DNAH5 and DNAH11. Case 3 had abnormality in microtubule and inner dynein arms with homozygous mutation of CCDC39. All the variations mentioned above have not been reported before. Twelve cases have been reported about gene variations in PCD in Chinese from eight reports. All these patients had recurrent respiratory infection starting soon after birth, rhinosinusitis, and bronchiectasis. Nine of them had dextrocardia. Four cases have taken an effective nasal (or bronchial) mucosal biopsy. 1 case had inner and outer dynein arms defects. One case had inner dynein arms and radial spokes defects. One case had microtubule and central pair defects. And 1 case had normal cilia ultrastructure. Eight kinds of gene variations were found. Three cases had gene variations of DNAH5. 2 cases had gene variations of DYX1C1. 2 cases had gene variations of CCNO. There was 1 case with gene variations of CCDC39, CCDC40, HYDIN, ARMC4 and DNAI1 separately. Recurrent respiratory infection starting soon after birth, rhinosinusitis, and bronchiectasis are the common symptoms of PCD. Eleven of fifteen Chinese PCD patients with positive gene mutations were Kartagener syndrome. Cilia ultrastructure showed defects of inner and outer dynein arms, radial spokes, microtubule and central pair. Ten kinds of gene variations were found: DNAH5, DYX1C1, CCNO, CCDC39, CCDC40, HYDIN, ARMC4, DNAI1, LRRC6、DNAH11.
分析原发性纤毛运动障碍（PCD）的临床表现、纤毛超微结构及基因变异情况。对2013年至2016年山东省立医院小儿呼吸科经支气管活检材料透射电子显微镜诊断为PCD的3例患者进行分析。采用目标基因序列捕获及二代测序技术分析基因。通过使用搜索词“PCD”、“基因”、“中文”，从《人类孟德尔遗传》、《人类基因突变数据库》、PubMed及中国知网检索截至2017年7月的关于PCD基因变异的中文相关文献。患者年龄为10至11岁，1例男性，2例女性。常见症状包括反复呼吸道感染、鼻窦炎及支气管扩张。其中2例有内脏反位。病例1缺乏外动力蛋白臂和内动力蛋白臂，存在LRRC6基因复合杂合突变。病例2有外动力蛋白臂和内动力蛋白臂缺陷，存在DNAH5和DNAH11基因杂合突变。病例3微管和内动力蛋白臂异常，存在CCDC39基因纯合突变。上述所有变异均未见此前报道。国内8篇报道共报道了12例PCD基因变异患者。所有这些患者出生后不久即出现反复呼吸道感染、鼻窦炎及支气管扩张。其中9例有右位心。4例进行了有效的鼻（或支气管）黏膜活检。1例有内、外动力蛋白臂缺陷。1例有内动力蛋白臂和辐条缺陷。1例有微管和中央微管对缺陷。1例纤毛超微结构正常。共发现8种基因变异。3例有DNAH5基因变异。2例有DYX1C1基因变异。2例有CCNO基因变异。分别有1例有CCDC39、CCDC40、HYDIN、ARMC4及DNAI1基因变异。出生后不久即出现反复呼吸道感染、鼻窦炎及支气管扩张是PCD的常见症状。15例基因检测阳性的中国PCD患者中有11例为卡塔格内综合征。纤毛超微结构显示内、外动力蛋白臂、辐条、微管及中央微管对缺陷。共发现10种基因变异：DNAH5、DYX1C1、CCNO、CCDC39、CCDC40、HYDIN、ARMC4、DNAI1、LRRC6、DNAH11。
