PDF(Pubmed)
Abstract：
Congenital diarrheas and enteropathies (CODE) are a group of rare, heterogenous, monogenic disorders that lead to chronic diarrhea in infancy. Definitive treatment is rarely available, and supportive treatment is the mainstay. Nutritional management in the form of either specialized formulas, restrictive diet, or parenteral nutrition support in CODE with poor enteral tolerance is the cornerstone of CODE treatment and long-term growth. The evidence to support the use of specific diet regimens and nutritional approaches in most CODE disorders is limited due to the rarity of these diseases and the scant published clinical experience. The goal of this review was to create a comprehensive guide for nutritional management in CODE, based on the currently available literature, disease mechanism, and the PediCODE group experience. Enteral diet management in CODE can be divided into 3 distinct conceptual frameworks: nutrient elimination, nutrient supplementation, and generalized nutrient restriction. Response to nutrient elimination or supplementation can lead to resolution or significant improvement in the chronic diarrhea of CODE and resumption of normal growth. This pattern can be seen in CODE due to carbohydrate malabsorption, defects in fat absorption, and occasionally in electrolyte transport defects. In contrast, general diet restriction is mainly supportive. However, occasionally it allows parenteral nutrition weaning or reduction over time, mainly in enteroendocrine defects and rarely in epithelial trafficking and polarity defects. Further research is required to better elucidate the role of diet in the treatment of CODE and the appropriate diet management for each disease.
摘要：
先天性腹泻和肠病（CODE）是一组罕见的，异质，导致婴儿期慢性腹泻的单基因疾病。最终治疗很少可用，支持治疗是主要的。以任何一种专门配方的形式进行营养管理，限制性饮食，或肠道外营养支持在肠道耐受性差的CODE，是CODE治疗和长期成长的基石。支持在大多数CODE疾病中使用特定饮食方案和营养方法的证据是有限的，因为这些疾病的罕见性和发表的临床经验很少。本次审查的目标是创建一个全面的营养管理指南，根据现有文献，疾病机制和PediCODE组的经验。CODE中的肠内饮食管理可以分为3个不同的概念框架-营养消除，营养补充，和普遍的营养限制。对营养消除或补充的反应可导致CODE慢性腹泻的解决或显着改善并恢复正常生长。这种模式可以在代码中看到，由于碳水化合物吸收不良，脂肪吸收缺陷，偶尔电解质运输缺陷。相比之下,一般饮食限制主要是支持性的。然而,偶尔，它允许肠外营养断奶或减少加班，主要是在肠内分泌缺陷，很少在上皮运输和极性缺陷。需要进一步的研究来更好地阐明饮食在CODE治疗中的作用以及每种疾病的适当饮食管理。
