儿童遗传代谢病的研究进展

Recent research on inherited metabolic diseases in children

摘要:

随着遗传代谢病（inherited metabolic diseases，IMD）研究水平和诊治技术的提高，我国儿童IMD的研究取得了很大进步，但相比于国际水平仍有一定距离。同时由于我国幅员辽阔，医疗资源分布不均，IMD尚没有明显的地域特征，在早期诊断和治疗上仍存在诸多的问题与困难。因此，提高儿科医生对儿童IMD认识的广度和深度，以期在提高整体专业诊治水平的同时，更好地做到对儿童IMD的早发现、早诊断、早治疗，更有效地降低IMD患儿的病死率与致残率。该文就我国儿童IMD的研究进展进行综述，并就其中具有代表性的IMD进行分析。

Abstract:

With the improvement in the research level and the diagnosis and treatment technology of inherited metabolic diseases (IMD), the research on pediatric IMD in China has made great progress, but there is still some distance from the international level. Due to the vast territory of China and the uneven distribution of medical resources, the regional characteristics of IMD remain unclear in China, and there are many problems and difficulties in early diagnosis and treatment. Therefore, it is necessary to improve the understanding of pediatric IMD among pediatricians, so as to improve the diagnosis and treatment level, achieve an early identification, diagnosis, and treatment of pediatric IMD, and effectively reduce the fatality and disability rates of children with IMD. This article reviews the research progress of IMD in children in China, and analyzes the features of representative IMDs. Citation:Chinese Journal of Contemporary Pediatrics, 2022, 24(3): 326-331