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Clinical Manifestations and Genotype of Primary Ciliary Dyskinesia Diagnosed in Korea: Multicenter Study

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Abstract
Purpose: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder that leads to secondary ciliary dysfunction. PCD is a rare disease, and data on it are limited in Korea. This study systematically evaluated the clinical symptoms, diagnostic characteristics, and treatment modalities of pediatric PCD in Korea.

Methods: This Korean nationwide, multicenter study, conducted between January 2000 and August 2022, reviewed the medical records of pediatric patients diagnosed with PCD. Prospective studies have been added to determine whether additional genetic testing is warranted in some patients.

Results: Overall, 41 patients were diagnosed with PCD in 15 medical institutions. The mean age at diagnosis was 11.8 ± 5.4 years (range: 0.5 months-18.9 years). Most patients (40/41) were born full term, 15 (36.6%) had neonatal respiratory symptoms, and 12 (29.3%) had a history of admission to the neonatal intensive care unit. The most common complaint (58.5%) was chronic nasal symptoms. Thirty-three patients were diagnosed with transmission electron microscopy (TEM) and 12 patients by genetic studies. TEM mostly identified outer dynein arm defects (alone or combined with inner dynein arm defects, n = 17). The genes with the highest mutation rates were DNAH5 (3 cases) and DNAAF1 (3 cases). Rare genotypes (RPGR, HYDIN, NME5) were found as well. Chest computed tomography revealed bronchiectasis in 33 out of 41 patients. Among them, 15 patients had a PrImary CiliAry DyskinesiA Rule score of over 5 points.

Conclusions: To our knowledge, this is the first multicenter study to report the clinical characteristics, diagnostic methods, and genotypes of PCD in Korea. These results can be used as basic data for further PCD research.
All Author(s)
Minji Kim ; Mi-Hee Lee ; Soo-Jong Hong ; Jinho Yu ; Joongbum Cho ; Dong In Suh ; Hyung Young Kim ; Hye-Young Kim ; Sungsu Jung ; Eun Lee ; Sooyoung Lee ; Kyunguk Jeong ; Jung Yeon Shim ; Jeong Hee Kim ; Hai Lee Chung ; Yoon Young Jang ; Ji-Won Kwon ; Ju-Hee Seo ; Ju Hee Kim ; Ji Young Ahn ; Kun-Baek Song ; Kyu-Sang Song ; So Yeon Kim ; Seon Young Kim ; Hong Ryang Kil ; Eun Hee Chung
Intsitutional Author(s)
송근백
Issued Date
2023
Type
Article
Keyword
Primary ciliary dyskinesiaphenotypegenotypesigns and symptomsdiagnosistherapeutics
Publisher
대한천식알레르기학회
대한소아알레르기호흡기학회
ISSN
2092-7355 ; 2092-7363
Citation Title
Allergy, asthma & immunology research
Citation Volume
15
Citation Number
6
Citation Start Page
757
Citation End Page
766
Language(ISO)
eng
DOI
10.4168/aair.2023.15.6.757
URI
http://schca-ir.schmc.ac.kr/handle/2022.oak/1531
Appears in Collections:
소아청소년과 > 1. Journal Papers
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