Rare diseases have such a low prevalence that special organisation of the patient care pathway is required to address them. In France, the implementation of specific cystic fibrosis (CF) centres [1] has improved the care pathway of CF patients. Indeed, early diagnosis and progress in usual routine treatment might have contributed to improving the prognosis of CF [2]. In the light of this success, rare respiratory diseases reference centres (CRMR: "centre de Références des Maladies Respiratoires Rares") were created from 2007 under the framework of the national plan for rare diseases. The ear, nose and throat (ENT), pneumology and paediatrics departments at our hospital (CHIC: "Centre hospitalier intercommunal de Créteil") have a long-standing expertise in the diagnosis and treatment of primary ciliary dyskinesia (PCD) [3, 4]. A reference centre for rare respiratory diseases (CRMR-RESPIRARE-Site Créteil) was accredited in 2017.

罕见疾病的患病率如此之低，因此需要对患者护理途径进行特殊组织来解决这些问题。在法国，特定囊性纤维化 (CF) 中心的实施 [1] 改善了 CF 患者的护理途径。事实上，早期诊断和常规常规治疗的进展可能有助于改善 CF 的预后 [2]。鉴于这一成功，罕见呼吸系统疾病参考中心（CRMR：“centre de Références des Maladies Respiratoires Rares”）于 2007 年在国家罕见疾病计划的框架下成立。我们医院的耳鼻喉科 (ENT)、肺科和儿科 (CHIC: “Centre hospitalier intercommunal de Créteil”) 在原发性纤毛运动障碍 (PCD) 的诊断和治疗方面拥有悠久的专业知识 [3, 4 ]。