원발성 섬모운동장애

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by abnormal ciliary function, which may lead to health issues, including chronic respiratory infections, situs inversus, and infertility. This review aims to provide a comprehensive overview of the pathogenesis, c...

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Bibliographic Details
Published inLaboratory Medicine Online, 15(1) Vol. 15; no. 1; pp. 21 - 27
Main Authors 조은혜, Eun Hye Cho
Format Journal Article
LanguageKorean
Published 대한진단검사의학회 2025
Subjects
임상병리학
Primary ciliary dyskinesia
Genetic testing
Cilia
Online AccessGet full text
ISSN2093-6338
DOI10.47429/lmo.2025.15.1.21

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Summary:Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by abnormal ciliary function, which may lead to health issues, including chronic respiratory infections, situs inversus, and infertility. This review aims to provide a comprehensive overview of the pathogenesis, clinical manifestations, diagnosis, and genetic basis of PCD. 원발성 섬모운동장애는 유전적으로 이질적인 질환으로, 비정상적인 섬모 기능으로 인해 만성 호흡기 감염, 내장역위증 및 불임을 초래한다. 본 고찰은 원발성 섬모운동장애의 발병 기전, 임상적 증상, 진단 및 유전적 기초에 대한 포괄적인 개요를 제공하는 것을 목표로 한다.
Bibliography:KISTI1.1003/JNL.JAKO202521836005938
ISSN:2093-6338
DOI:10.47429/lmo.2025.15.1.21