Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia

Kazuki Chiyonobu; Yifei Xu; Guofei Feng; Shun Saso; Satoru Ogawa; Makoto Ikejiri; Miki Abo; Mitsuko Kondo; Shimpei Gotoh; Hisami Kubo; Koa Hosoki; Mizuho Nagao; Takao Fujisawa; Kaname Nakatani; Kazuhiko Takeuchi

doi:10.1016/j.anl.2021.08.003

Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia

Auris Nasus Larynx. 2022 Apr;49(2):248-257. doi: 10.1016/j.anl.2021.08.003. Epub 2021 Aug 26.

Authors

Kazuki Chiyonobu¹, Yifei Xu¹, Guofei Feng¹, Shun Saso², Satoru Ogawa³, Makoto Ikejiri⁴, Miki Abo⁵, Mitsuko Kondo⁶, Shimpei Gotoh⁷, Hisami Kubo¹, Koa Hosoki⁸, Mizuho Nagao⁹, Takao Fujisawa⁹, Kaname Nakatani¹⁰, Kazuhiko Takeuchi¹¹

Affiliations

¹ Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
² School of Medicine, Mie University, Tsu, Mie, Japan.
³ Electron Microscopy Research Center, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
⁴ Department of Clinical Laboratory, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
⁵ Department of Respiratory Medicine, Kanazawa University, Kanazawa, Ishikawa, Japan.
⁶ Department of Respiratory Medicine, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan.
⁷ Department of Drug Discovery for Lung Diseases, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto, Japan.
⁸ Department of Medicine, Immunology Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, USA.
⁹ Institute for Clinical Research, National Hospital Organization Mie National Hospital, Tsu, Mie, Japan.
¹⁰ Department of Genomic Medicine, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
¹¹ Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Mie, Japan. Electronic address: kazuhiko@clin.medic.mie-u.ac.jp.

PMID: 34454779
DOI: 10.1016/j.anl.2021.08.003

Abstract

Objective: Primary ciliary dyskinesia (PCD) is a rare hereditary disease. Most reports of PCD in Japan are case reports, and clinical analysis has not been performed. Differences in the causative genes might affect the clinical features in different ethnic groups. The purpose of this study was to clarify the clinical features of Japanese patients with PCD.

Methods: We performed a retrospective chart review of PCD patients seen at Mie University Hospital and patients whose blood samples were sent to us for genetic analysis from 2011 to 2020. Data on the following items were collected and analyzed: age at first visit to the hospital, age at diagnosis of PCD, process of referral to our facility, chief complaint, situs status, PrImary CiliARy DyskinesiA Rule (PICADAR) score, nasal nitric oxide concentration, otoscopic findings, rhinoscopic findings, and paranasal computed tomography scan findings.

Results: Sixty-seven patients (24 male, 43 female) were diagnosed with PCD during the study period. Age at diagnosis ranged from 2 months to 69 years (median, 17 years). Respiratory symptoms (77%) were the most common complaint, followed by nasal (15%) and aural (8%) symptoms. Situs inversus was present in 17 (25%) cases. Only 2 cases had congenital cardiac anomalies. The mean PICADAR score was 7.3 (range, 3-14) points. Approximately 50% of tympanic membranes showed retraction, suggesting otitis media with effusion. The mean Lund-Mackay score was 12.8 (range, 7-17) points, suggesting that the radiographic findings were not always severe. There was no significant difference in the total Lund-Mackay score between patients with and without situs inversus (12.7 vs. 12.6, respectively).

Conclusion: Situs inversus was present in 25% of Japanese PCD patients, which is much lower than observed in other countries. This is a result of differences in the major disease-causing genes. The general rule that "situs inversus is observed in approximately 50% of PCD patients" cannot be applied, at least, in Japanese PCD patients.

Keywords: Gene variants; PCD; PICADAR score; Situs inversus.

MeSH terms

Female
Humans
Infant
Japan / epidemiology
Kartagener Syndrome* / complications
Kartagener Syndrome* / diagnosis
Kartagener Syndrome* / genetics
Male
Nitric Oxide / analysis
Otitis Media* / etiology
Retrospective Studies

Substances

Nitric Oxide