Group for Improvement of Intestinal Function and Treatment (GIFT), Transplant and Regenerative Centre, SickKids Hospital, Toronto, ON, Canada; Division of Gastroenterology, Hepatology and Nutrition, SickKids Hospital, University of Toronto, Toronto, ON, Canada.
Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Congenital Enteropathy Program, Boston Children's Hospital, Boston, MA, United States;; Harvard Digestive Disease Center, Boston MA, United States.
Am J Clin Nutr. 2024 Jul;120(1):17-33. doi: 10.1016/j.ajcnut.2024.05.004. Epub 2024 May 9.
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.
先天性腹泻和肠病（CODE）是一组罕见的、异质性的、单基因疾病，可导致婴儿期慢性腹泻。明确的治疗方法很少，支持性治疗是主要方法。在 CODE 中，由于肠内耐受性差，采用特殊配方、限制饮食或肠外营养支持的营养管理是 CODE 治疗和长期生长的基石。由于这些疾病罕见，发表的临床经验有限，因此大多数 CODE 疾病中使用特定饮食方案和营养方法的证据有限。本综述的目的是基于现有文献、疾病机制和 PediCODE 组的经验，为 CODE 中的营养管理创建一个综合指南。CODE 中的肠内饮食管理可分为 3 个不同的概念框架：营养素消除、营养素补充和广义营养素限制。对营养素消除或补充的反应可导致 CODE 慢性腹泻的缓解或显著改善，并恢复正常生长。这种模式可见于由于碳水化合物吸收不良、脂肪吸收缺陷，偶尔也见于电解质转运缺陷引起的 CODE。相比之下，一般饮食限制主要是支持性的。然而，它偶尔会随着时间的推移逐渐减少或停止肠外营养，主要是在肠内分泌缺陷中，很少在肠上皮转运和极性缺陷中。需要进一步研究以更好地阐明饮食在 CODE 治疗中的作用以及每种疾病的适当饮食管理。
