应用管饲支持遗传代谢病患者的营养治疗

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases

遗传代谢病(IMD)又称为先天性代谢异常(IEM),指的是一类由于生化代谢异常导致多器官受损的单基因遗传病。对于遗传代谢病的治疗,虽然目前基因和酶替代疗法受到广泛关注,但大多数情况下应用的治疗方法还是营养干预。营养治疗便于广泛应用且疗效显著,对于许多IMD的管理来说至关重要。IMD营养治疗的研究和临床实践主要集中在不同的饮食组成上,目的是维持代谢稳定正常。这些疾病需要在分解代谢阶段进行连续的肠内营养来提供足够的能量用于满足代谢需求,并防止蛋白质水解和脂肪酶解相关的失衡。遗传代谢病的治疗目标是维持代谢稳定正常。肠内管饲营养(ETF)是治疗这些疾病儿童的关键组成部分。无论疾病类型如何,全球范围内都越来越广泛地实施家庭ETF方案,以提高生活质量。然而,我国对于遗传性代谢病患者的鼻饲喂养几乎没有实施,应引起重视并践行。文章对ETF基本概念和技术进行了简要介绍。

Inherited metabolic diseases(IMD),also known as congenital metabolic abnormalities(IEM),refer to a class of single gene genetic diseases due to biochemical metabolic abnormalities that lead to multiple organ damage.For the treatment of IMD,although gene and enzyme replacement therapy have received much attention,the majority of effective treatment methods are nutritional interventions.Nutritional therapy is widely available and has excellent therapeutic effects,so it is crucial for the management of many IMD.The research and clinical practice of IMD nutritional therapy mostly focused on different dietary compositions,and the treatment goal is to maintain stable and normal metabolism.These diseases require continuous enteral feeding during the catabolic stage to provide sufficient energy to meet metabolic needs,and prevent decompensation related to protein hydrolysis and lipolysis.The treatment goal of IMD is to maintain metabolic stability and normalcy.ETF is a key method in treating these diseases in children.Regardless of the type of the disease,home Enteral tube feeding(ETF)programs have increasingly been implemented globally to improve the quality of life.However,there is almost no implementation of tube feeding for patients with IMD in our country,which should be taken seriously and implemented.In this article,a brief introduction is given to the basic concepts and technique of ETF.