Abstract
BackgroundPrimary 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.MethodsA 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.ResultsAfter 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%).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.
Highlights
Primary ciliary dyskinesia (PCD) is a rare genetic disorder
Combinations of several tests are proposed to make a diagnosis of PCD; nasal nitric oxide (NO) measurement, observation of ciliary structure under electron microscope (EM), genetic panel tests, ciliary-beat and -waveform analysis with high speed videomicroscopy (HSVM), and immunofluorescence (IF) test [3, 7]
We aimed to outline patients with PCD previously reported in Japan when the diagnosis was mainly based on EM findings (1985 to 2015); along with their clinical and laboratory findings, and diagnostic methods, and to compare the findings of this review with those reported from other countries, which may help facilitate establishment of a modernized PCD diagnosis and management system
Summary
Primary ciliary dyskinesia (PCD) is a rare genetic disorder. 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. Primary ciliary dyskinesia (PCD) is a rare genetic disorder with structural and/or functional abnormalities in cilia of various organs and flagella of sperm [1, 2]. PCD often presents as neonatal respiratory distress, hypoxia shortly after birth and situs anomaly, followed by chronic airway infection usually with infertility [3]. Combinations of several tests are proposed to make a diagnosis of PCD; nasal nitric oxide (NO) measurement, observation of ciliary structure under electron microscope (EM), genetic panel tests, ciliary-beat and -waveform analysis with high speed videomicroscopy (HSVM), and immunofluorescence (IF) test [3, 7]. Clinicians tend to diagnose them as having a non-specific chronic airway disease [7,8,9].
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