容易导致肺功能损害的遗传代谢病  

Inherited metabolic diseases that are prone to cause the impairment of lung function

作　　者：贺薷萱 叶乐平 杨艳玲[1] He Ruxuan;Ye Leping;Yang Yanling(Department of Pediatrics,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院儿科,100034

出　　处：《中华实用儿科临床杂志》2020年第9期671-676,共6页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(81971424);国家重点研发计划(2017YFC1001700)。

摘　　要：遗传代谢病临床表现多种多样,如果不能及时治疗,常造成多系统多脏器损害,肺为遗传代谢病的常见受累靶器官之一。部分患者表现为反复肺部感染和/或呼吸困难、呼吸衰竭,久之出现肺功能损害,增加了遗传代谢病的住院率和病死率。由于患者缺乏特异性症状与体征,早期识别困难,易被误诊为儿童呼吸系统疾病。因此,探讨遗传代谢病的肺部受累情况,从症状、体征、影像学表现、生化及基因分析等多方面予以甄别,有助于临床医师提高警惕,进行及时的早期干预,从而改善患者的肺功能及生活质量。The clinical manifestations of inherited metabolic diseases are diverse.If not treated in time,they often cause damage to multiple systems and multiple organs,including the lung,which is one of the common target organs of inherited metabolic diseases.Some patients present with recurrent respiratory infections and/or dyspnea and respiratory failure,and long-term lung damage,which increase the rate of hospitalization and mortality of inherited metabolic diseases.Because patients lack specific symptoms and signs,early identification is difficult,and they are easily misdiagnosed as children′s respiratory diseases.Therefore,now,the lung involvement of inherited metabolic diseases was explored,and the symptoms,signs,chest imaging manifestations,biochemical and genetic analysis,etc.,were differentiated in order to help clinicians to increase vigilance and conduct timely intervention to improve lung function and the quality of life of the patients.

关 键 词：遗传代谢病 肺部表现 肺功能损害 呼吸困难 

分 类 号：R589[医药卫生—内分泌] R563[医药卫生—内科学]