Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review

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.

Keywords: children; enteral autonomy; food; formula; neonatal diarrhea; nutrition; parenteral nutrition; treatment; tube feeding; weaning.

FIGURE 1

Impact of CODE disorders on nutrient and micronutrient absorption. Normal absorption of nutrients, micronutrients, water, and electrolytes according to enterocyte anatomical location is shown. The upper portion of the figure depicts CODE disease groups and the anatomical location affected by each group. Malabsorption of specific nutrients and micronutrients is determined based on the CODE defect and the anatomical location of the affected bowel. CODE, congenital diarrheas and enteropathies; FA, fatty acid; LCT, long-chain triglyceride; MCT, medium-chain triglyceride.

FIGURE 2

Mechanism of dietary therapy in CODE disorders. Three mechanisms of dietary therapy characterize the management approach in CODE—Nutrient elimination: removal of specific nutrients leads to resolution or improvement in diarrhea; Nutrient supplementation: addition of specific electrolytes or micronutrients leads to resolution of diarrhea or improved nutritional balance and food tolerance; Nutrient restriction: general restriction of food type or its amount may improve the degree of diarrhea and allow promotion of food intake and PN weaning. CODE, congenital diarrheas and enteropathies; DGAT1, diacylglycerol O-acyltransferase 1; PN, parenteral nutrition; THE, trichohepatoenteric syndrome.