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

Abstract

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

Sinonasal disease among patients with primary ciliary dyskinesia – an international study

“…Their findings were more severe than among our population, probably because we included children and more young adults. A study including 67 adults with PCD in Japan supports our finding that nasal polyps were observed more frequently with increasing age [37]. Although we did not observe similarly, higher odds of having CRS have been described for tobacco smoke exposure in the general population.…”

Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia

“…Retrospective medical record review studies of children provide the most current knowledge about PCD-associated ear problems; however, test result and symptom records are not standardized . In these studies, acute ear problems appear to improve with age—probably because of eustachian tube anatomical changes and its changing angle with respect to the base of the skull.…”

“…23 Retrospective medical record review studies of children provide the most current knowledge about PCD-associated ear problems; however, test result and symptom records are not standardized. [24][25][26] In these studies, acute ear problems appear to improve with age-probably because of eustachian tube anatomical changes and its changing angle with respect to the base of the skull. In an earlier French study, although acute otitis media improved with age, OME reportedly remained frequent among adults and showed no spontaneous improvement.…”

A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia

“…The prevalence of PCD is estimated to be 1 in 20,000 live births ( 2 ). Patients typically present with chronic otosinopulmonary disease and infertility ( 3 ), and approximately 25% of such patients in Japan have situs inversus ( 4 ).…”