Abstract: Respiratory rare diseases are an important disease in children， which seriously affects the physical and mental health of children. However， due to its low incidence rate and nonspecific clinical manifestations， it is easy to cause misdiagnosis and delayed diagnosis. Early diagnosis and treatment and standardized management of rare respiratory diseases in children are of great significance to improving their prognosis and even survival.This article discusses the diagnosis， treatment and management of children with rare respiratory diseases， as well as clinical and basic research， in order to improve the understanding and management level of pediatric medical workers of such diseases.

Key words: respiratory rare diseases, child, diagnosis, treatment

摘要： 呼吸系统罕见病是儿童重要疾病，严重影响患儿的身心健康。但是由于其发病率低，临床表现不特异，易造成漏诊和误诊。儿童呼吸系统罕见病的早期诊治及规范管理对改善其预后甚至生存期具有重要意义。该文从儿童呼吸系统罕见病的诊断、治疗与管理，及临床与基础研究等维度阐述，以期提高广大儿科医务工作者对此类疾病的认识和管理水平。

关键词: 呼吸系统罕见病, 儿童, 诊断, 治疗