Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-tuberculosis Association, 3-1-24, Matsuyama, Kiyose, Tokyo, 204-8533, Japan.
Department of Respiratory Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
BMC Pulm Med. 2019 Jul 25;19(1):135. doi: 10.1186/s12890-019-0897-4.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic algorithms have recently been recommended, clinical signs and electron microscope (EM) findings have historically been the mainstays of diagnosis in Asia. To characterize PCD previously reported in Japan, we conducted a systematic review and meta-analysis.
A search using MEDLINE, EMBASE, and Japana Centra Revuo Medicina (in Japanese) databases was carried out to identify articles reporting PCD, Kartagener syndrome, or immotile cilia syndrome in Japanese patients and published between 1985 and 2015.
After excluding duplication from 334 reports, we extracted 316 patients according to the criteria. Diagnosis was most frequently made in adulthood (148 patients [46.8%] ≥ 18 years old, 24 patients [7.6%] < 1 year old, 68 patients [21.5%] 1-17 years old and 76 patients [24.1%] lacking information). Of the 230 patients (72.8%) who received EM examination, there were patients with inner dynein arm (IDA) defects (n = 55; 23.9%), outer dynein arm (ODA) defects (14; 6.1%), both ODA and IDA defects (57; 24.8%), other structural abnormalities (25; 10.9%), no abnormalities (4; 1.7%), and no detailed conclusion or description (75; 32.6%).
Delayed diagnosis of this congenital disease with high frequency of IDA defects and low frequency of ODA defects appear to be historical features of PCD reported in Japan, when EM was a main diagnostic tool. This review highlights problems experienced in this field, and provides basic information to establish a modernized PCD diagnosis and management system in the future.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病。尽管最近推荐了基因检测和新的诊断算法，但在亚洲，临床症状和电子显微镜（EM）检查结果一直是诊断的主要依据。为了描述日本以前报道的 PCD，我们进行了系统回顾和荟萃分析。
使用 MEDLINE、EMBASE 和 Japana Centra Revuo Medicina（日语）数据库进行搜索，以确定 1985 年至 2015 年间在日本患者中报道的 PCD、Kartagener 综合征或不动纤毛综合征的文章。
在排除 334 篇报道中的重复内容后，根据标准共提取了 316 名患者。诊断最常发生在成年期（148 名[46.8%]≥18 岁，24 名[7.6%]＜1 岁，68 名[21.5%]1-17 岁，76 名[24.1%]缺乏信息）。在接受 EM 检查的 230 名患者（72.8%）中，有内动力蛋白臂（IDA）缺陷患者（n=55；23.9%）、外动力蛋白臂（ODA）缺陷患者（14；6.1%）、IDA 和 ODA 均有缺陷患者（57；24.8%）、其他结构异常患者（25；10.9%）、无异常患者（4；1.7%）和无详细结论或描述患者（75；32.6%）。
当 EM 是主要诊断工具时，这种先天性疾病的诊断延迟，IDA 缺陷的频率高，ODA 缺陷的频率低，似乎是日本以前报道的 PCD 的历史特征。本综述突出了该领域存在的问题，并为今后建立现代化的 PCD 诊断和管理系统提供了基本信息。
