儿童遗传性代谢疾病的最新研究。
Recent research on inherited metabolic diseases in children.
机构信息
Department of Pediatrics, General Hospital of Tianjin Medical University, Tianjin 300052, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Mar 15;24(3):326-331. doi: 10.7499/j.issn.1008-8830.2111010.
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. .
随着遗传性代谢疾病（IMD）研究水平和诊治技术的提高，中国儿科 IMD 的研究取得了较大进展，但与国际水平仍存在一定差距。由于中国地域广阔，医疗资源分布不均，IMD 的区域性特征尚不清楚，在早期诊断和治疗方面存在诸多问题和困难。因此，有必要提高儿科医生对儿科 IMD 的认识，以提高诊断和治疗水平，实现对儿科 IMD 的早期识别、诊断和治疗，有效降低 IMD 患儿的病死率和致残率。本文就中国儿童 IMD 的研究进展进行综述，并分析了具有代表性的 IMD 的特征。
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