摘要
遗传性表面活性物质功能障碍疾病是表面活性物质合成和代谢过程中的相关基因变异引起的一组疾病,是儿童间质性肺疾病的重要病因。随着基因测序技术的广泛应用,本病诊断门槛降低,但识别临床线索以及治疗管理的能力仍有待加强。为提高儿科医师对本病的认识,促进早期诊断和规范治疗,改善患儿预后,特组织专家制定本共识。
Genetic disorders of surfactant dysfunction are a group of diseases caused by genetic mutations involved in the synthesis and metabolism process of surfactant,which are important etiologies in pediatric interstitial lung diseases.Despite the widespread application of genetic diagnostic technologies,there is still a need to improve the recognition of clinical clues,as well as treatments and management for this disease.In order to enhance the understanding of pediatricians regarding this disease,promote early diagnosis and standardized treatment,and improve the prognosis,this study has convened an experts panel to establish this consensus.
作者
中国医药教育协会儿科专业委员会
中华医学会儿科学分会呼吸学组哮喘协作组
中国医师协会呼吸医师分会儿科呼吸工作委员会
中国研究型医院学会儿科学专业委员会
中国非公立医疗机构协会儿科专业委员会
中国中药协会儿童健康与药物研究专业委员会
中国医药新闻信息协会儿童安全用药分会
中国初级卫生保健基金会儿科专家委员会
全球儿科呼吸联盟
申昆玲
刘秀云
陈杰华
姚瑶
China Medicine Education Association Committee on Pediatrics;Cooperative Group of Asthma,the Subspecialty Group of Respiratory,the Society of Pediatrics,Chinese Medical Association;Chinese Medical Doctor Association Committee on Respirology Pediatrics;Chinese Research Hospital Association Committee on Pediatrics;Chinese Non-Government Medical Institutions Association Committee on Pediatrics;China Association of Traditional Chinese Medicine,Committee on Children′s Health and Medicine Research;China News of Drug Information Association,Committee on Children′s Safety Medication;China Primary Health Care Education Foundation Committee on Pediatrics;Global Pediatric Pulmonology Alliance;Shen Kunling;Liu Xiuyun
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2023年第12期881-890,共10页
Chinese Journal of Applied Clinical Pediatrics
