Primary ciliary dyskinesia in Japan: systematic review and meta-analysis

Abstract

Background 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. Methods 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. Results 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%). Conclusion 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. Electronic supplementary material The online version of this article (10.1186/s12890-019-0897-4) contains supplementary material, which is available to authorized users.

Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis

“…PCD is a rare hereditary autosomal disease associated with structural and functional abnormalities of the motile cilia [ 6 – 8 ]. The clinical presentations of PCD are diverse and include situs inversus, CRS, otitis media, chronic bronchitis, and infertility.…”

“…The clinical presentations of PCD are diverse and include situs inversus, CRS, otitis media, chronic bronchitis, and infertility. Although Kartagener syndrome was formerly known as a classical phenotype of PCD with the Kartagener triad, namely, situs inversus, CRS, and bronchiectasis, situs inversus is observed in approximately half of patients with PCD [ 1 , 8 ]. However, the diagnosis of PCD is often delayed or missed – even in children who showed the characteristic clinical courses of PCD – due in part to the limitation of the available diagnostic examination, the technical expertise required for an accurate diagnosis, and a lack of physician knowledge [ 3 , 9 – 11 ].…”

“…Several types of cilia abnormalities including deletion of the outer dynein arms, inner dynein arms, and central microtubes have been identified in patients with PCD. Among these findings, defect of the outer dynein arms is most frequently observed in PCD (approximately 40%) [ 8 ]. The 2 classes of transmission electron microscopic diagnostic defects for PCD were identified by an expert consensus group.…”

“…Although there is no specific treatment for PCD at present, it is likely that the prognosis is improved when patients are diagnosed early and their complications are managed properly [ 8 , 23 , 24 ]. Early diagnosis also enables patients and their families to receive appropriate genetic counseling.…”

Delayed Diagnosis of Kartagener Syndrome in a Fertile Young Man – An Unusual Case

“…7 The percentage of patients with PCD that exhibit situs inversus varies, but in general, it is around 50-70%. [4][5][6] Infertility is common in men with Kartagener because of impairment of sperm motility.…”