Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker-Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade
{"title":"Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.","authors":"Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker-Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade","doi":"10.1002/rcr2.70057","DOIUrl":null,"url":null,"abstract":"<p><p>Reduced generation of multiple motile cilia (RGMC) represents a rare variant of Primary Ciliary Dyskinesia (PCD), associated with <i>CYCLIN-O (CCNO)</i> mutations. We report a novel compound mutation in the <i>CCNO</i> gene in an adult Chinese Singaporean exhibiting chronic productive cough since childhood and recurrent sino-pulmonary infections. Low nasal nitric oxide and bronchiectasis suggests PCD. Bronchoscopy for epithelial and nasal brushings for ciliary studies were repeated after adequate treatment of lower respiratory tract infections. Demonstration of oligo-cilia via transmission electron microscopy, and detection of <i>CCNO</i> mutation through genetic analysis were utilized to diagnose RGMC. Repeated courses of antibiotics including nebulised antibiotics were used to treat recurrent infections and exacerbations. Airway clearance techniques, immunizations and collaboration with otorhinolaryngologist form part of the long-term management. Heightened clinical suspicion and adherence to established diagnostic algorithms are essential for timely recognition of this entity.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.8000,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519382/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Respirology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/rcr2.70057","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
引用次数: 0
Abstract
Reduced generation of multiple motile cilia (RGMC) represents a rare variant of Primary Ciliary Dyskinesia (PCD), associated with CYCLIN-O (CCNO) mutations. We report a novel compound mutation in the CCNO gene in an adult Chinese Singaporean exhibiting chronic productive cough since childhood and recurrent sino-pulmonary infections. Low nasal nitric oxide and bronchiectasis suggests PCD. Bronchoscopy for epithelial and nasal brushings for ciliary studies were repeated after adequate treatment of lower respiratory tract infections. Demonstration of oligo-cilia via transmission electron microscopy, and detection of CCNO mutation through genetic analysis were utilized to diagnose RGMC. Repeated courses of antibiotics including nebulised antibiotics were used to treat recurrent infections and exacerbations. Airway clearance techniques, immunizations and collaboration with otorhinolaryngologist form part of the long-term management. Heightened clinical suspicion and adherence to established diagnostic algorithms are essential for timely recognition of this entity.
期刊介绍:
Respirology Case Reports is an open-access online journal dedicated to the publication of original clinical case reports, case series, clinical images and clinical videos in all fields of respiratory medicine. The Journal encourages the international exchange between clinicians and researchers of experiences in diagnosing and treating uncommon diseases or diseases with unusual presentations. All manuscripts are peer-reviewed through a streamlined process that aims at providing a rapid turnaround time from submission to publication.