Abstract
Background: Primary ciliary dyskinesia (PCD) is a rare genetic diseases characterized by functional cilia impairment. Patients with PCD would miss the opportunity to receive appropriate diagnosis due to various physical symptoms. In Japan, there has been no or few nation-wide survey of PCD.
Method: To investigate the current status of patients with PCD in Japan, we conducted the first nation-wide survey of PCD for 1823 institutes in 2016, in collaboration with the Diffuse Lung Diseases Research Group from the Ministry of Health, Labour and Welfare, Japan.
Results: In this survey, questionnaire answers were obtained from 481 institutes (response rate; 26.4%). There were 51 institutes with the patients who were diagnosed as PCD. Overall, 116 cases were reported as patients with PCD and total 73 patients were followed by the institutes at the time of this survey. The diagnostic methods are transmission electron microscopy (76 cases), high-speed video analysis (17 cases), nasal nitric oxide measurement (16 cases), and others (24 cases). The numbers of the patients diagnosed by genetic analysis were 11 cases.
Conclusions: This first nation-wide survey of PCD in Japan provided the basis for further analysis of clinical characteristics in patients with PCD by a second survey and establishment of appropriate diagnosis criteria in Japan.
Footnotes
Cite this article as: European Respiratory Journal 2018 52: Suppl. 62, PA4427.
This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).
- Copyright ©the authors 2018