一名支气管扩张症患者因多种运动纤毛生成减少而出现的新型 CYCLIN-O 致病变体。

IF 0.8 Q4 RESPIRATORY SYSTEM Respirology Case Reports Pub Date : 2024-10-29 eCollection Date: 2024-11-01 DOI:10.1002/rcr2.70057
Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker-Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade
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引用次数: 0

摘要

多发性纤毛运动障碍(RGMC)是原发性纤毛运动障碍(PCD)的一种罕见变异型,与 CYCLIN-O (CCNO)基因突变有关。我们报告了一名成年华裔新加坡人自孩提时代起就表现出慢性有痰咳嗽和反复的中枢性肺部感染,其 CCNO 基因发生了新的复合突变。低鼻腔一氧化氮和支气管扩张提示存在 PCD。在充分治疗下呼吸道感染后,再次进行支气管镜上皮检查和鼻刷毛纤毛检查。通过透射电子显微镜显示少纤毛,并通过基因分析检测 CCNO 突变,诊断为 RGMC。反复使用抗生素(包括雾化抗生素)治疗反复感染和病情加重。气道清理技术、免疫接种以及与耳鼻喉科医生的合作是长期管理的一部分。加强临床怀疑和遵守既定的诊断算法对于及时识别这种疾病至关重要。
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Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.

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.

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来源期刊
Respirology Case Reports
Respirology Case Reports RESPIRATORY SYSTEM-
CiteScore
1.40
自引率
0.00%
发文量
178
审稿时长
8 weeks
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.
期刊最新文献
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