Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.
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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%]?ConclusionDelayed 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.
SUBMITTER: Inaba A
PROVIDER: S-EPMC6659197 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.
Inaba Atsushi A Furuhata Masanori M Morimoto Kozo K Rahman Mahbubur M Takahashi Osamu O Hijikata Minako M Knowles Michael R MR Keicho Naoto N
BMC pulmonary medicine 20190725 1
<h4>Background</h4>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.<h4>Methods</h4>A search using MEDLINE, EMBASE, and Japana Centra Revuo Medicina (in Japanese) databases was carried o ...[more]
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