儿童累及呼吸系统罕见病治疗进展

Advances in the treatment of rare diseases involving the respiratory system in children

罕见病是指在人群中发病率和患病率极低或患病人数很少的一组疾病,多与遗传因素有关,约50%于儿童期发病,且多为终身疾患。其中部分疾病主要累及呼吸系统或以呼吸系统症状起病,如囊性纤维化、联合免疫缺陷病、肺泡蛋白沉积症等。对症治疗是此类疾病的基础治疗。近年来,随着医学发展,很多罕见病发病机制得以进一步明确,其治疗也取得进步,部分患者可获得更有针对性的治疗,如分子矫正治疗、替代治疗、基因治疗等,使得此类患者的生存期得以延长,生活质量得以提高。

Rare diseases refer to a group of diseases with very low incidence and prevalence in the population or involving a small number of patients,most of which are related to genetic factors.About 50%of the diseases occur during childhood,and most are life long.Some of these diseases mainly involve the respiratory system or begin with respiratory symptoms,such as cystic fibrosis,combined immunodeficiency,pulmonary alveolar proteinosis,etc.Symptomatic treatment is the basic treatment for these diseases.In recent years,with the rapid development of medicine,more and more pathogenesis is clarified.Treatments for rare diseases also have great progress.Some patients can get more targeted treatments,such as molecular orthodontic treatment,alternative treatment,gene therapy,etc.,which help the patients prolong survival time and improve the quality of life.