Guilleminault Laurent, Mazzone Stuart B, Chazelas Pauline, Frachet Simon, Lia Anne-Sophie, Magy Laurent
Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), INSERM UMR1291, CNRS UMR5051, University Toulouse III, Toulouse, France.
Department of Respiratory Medicine, Faculty of Medicine, Toulouse University Hospital, Toulouse, France.
ERJ Open Res. 2024 Jul 29;10(4). doi: 10.1183/23120541.00024-2024. eCollection 2024 Jul.
Chronic cough is a frequent disorder that is defined by cough of more than 8 weeks duration. Despite extensive investigation, some patients exhibit no aetiology and others do not respond to specific treatments directed against apparent causes of cough. Such patients are identified as having unexplained or refractory chronic cough. Recently, a high proportion of patients with chronic cough in the context of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) was highlighted. CANVAS is a rare neurological disorder with a biallelic variation in the replication factor C subunit 1 () gene corresponding mostly to an intronic AAGGG repeat expansion. Chronic cough in patients with CANVAS shares similar characteristics with cough hypersensitivity syndrome. The high prevalence of chronic cough in CANVAS gives the opportunity to better understand the neurogenic mechanism of chronic cough. In this review, we will describe the characteristics and mechanisms of CANVAS. We will also address the potential mechanisms responsible for chronic cough in CANVAS. Finally, we will address chronic cough management in the context of CANVAS.
慢性咳嗽是一种常见病症，定义为持续时间超过8周的咳嗽。尽管进行了广泛的调查，但一些患者仍未明确病因，另一些患者对针对明显咳嗽病因的特定治疗无反应。这些患者被确定为患有不明原因或难治性慢性咳嗽。最近，小脑性共济失调、神经病变和前庭无反射综合征（CANVAS）患者中慢性咳嗽的高比例受到了关注。CANVAS是一种罕见的神经系统疾病，复制因子C亚基1（）基因存在双等位基因变异，主要对应于内含子AAGGG重复序列扩增。CANVAS患者的慢性咳嗽与咳嗽高敏综合征具有相似特征。CANVAS中慢性咳嗽的高患病率为更好地理解慢性咳嗽的神经源性机制提供了契机。在这篇综述中，我们将描述CANVAS的特征和机制。我们还将探讨CANVAS中慢性咳嗽的潜在机制。最后，我们将讨论CANVAS背景下的慢性咳嗽管理。
