中国实用儿科杂志

中国实用儿科杂志 ›› 2022, Vol. 37 ›› Issue (10): 721-723.DOI: 10.19538/j.ek2022100601

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饮食治疗在罕见病治疗中的机遇与挑战

  

  1. 上海交通大学医学院附属新华医院  a 临床营养科，b 儿内分泌遗传代谢科，c 上海市儿科医学研究所，d 上海市小儿消化与营养重点实验室，上海  200092
  • 出版日期:2022-10-06 发布日期:2022-11-11
  • 通讯作者: 蔡威，电子信箱：caiw1978@163.com

Dietary therapy in the treatment of rare diseases: Opportunities and challenges

  1. *Department of Clinical Nutrition，Xinhua Hospital，School of Medicine，Shanghai Jiao Tong University，Shanghai  200092，China 
  • Online:2022-10-06 Published:2022-11-11

摘要： 近年来随着医学技术的高速发展，罕见病的诊治取得了巨大进步。80%的罕见病为遗传病，涉及到不同营养素的合成和分解代谢。饮食治疗，包含食物和特殊医学用途配方食品的使用，是罕见病治疗的基石。然而，目前国内特医食品的供给和专职营养师在罕见病饮食治疗中的参与存在各种问题。突破这些瓶颈，将改善罕见病患者治疗的临床结局。

关键词: 罕见病, 饮食治疗, 特医食品, 营养师

Abstract: With the rapid development of medical technology，great progress has been made in the diagnosis and treatment of rare diseases in recent years. Eighty percent of rare diseases are genetic disorders，involving synthesis and catabolism of different nutrients. Dietary therapy，including the use of foods and food for special medical purpose，is the cornerstone of the treatment for rare diseases. However，there are various obstacles in the supply of food for special medical purpose and in dietitians' participation in dietary treatment of rare diseases currently in China. Breakthroughs in these bottlenecks will improve clinical outcomes of patients with rare diseases.

Key words: rare disease, dietary therapy, food for special medical purpose, dietitian