Inherited metabolic diseases that are prone to cause the impairment of lung function
10.3760/cma.j.cn101070-20200320-00471
- VernacularTitle:容易导致肺功能损害的遗传代谢病
- Author:
Ruxuan HE
1
;
Leping YE
;
Yanling YANG
Author Information
1. 北京大学第一医院儿科 100034
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(9):671-676
- CountryChina
- Language:Chinese
-
Abstract:
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.
