Features of the course of tufted enteropathy in childhood

Abstract

Tufting enteropathy (Intestinal Epithelial Dysplasia, IED) is a rare genetic disease that manifests from the first days of life with severe intractable diarrhea, leading to profound protein-energy malnutrition, acidosis, and dehydration. In most cases, it results in partial or complete dependence on parenteral nutrition. The disease is caused by mutations in the EpCAM and SPINT2 genes and presents in two main forms: the typical form, characterized by refractory diarrhea, and the syndromic form, which includes congenital malformations such as anal and choanal atresias, as well as ophthalmological abnormalities. Diagnosis is based on a combination of clinical presentation and histological findings, including villous atrophy and disorganization of enterocytes with focal tufting. Genetic testing to detect mutations in the EpCAM and SPINT2 genes plays a crucial role in confirming the diagnosis. The primary treatment option remains small bowel transplantation. However, the high mortality rate, diagnostic challenges, and the absence of pathogenetic therapy underscore the unfavorable prognosis of the disease. The relevance of this topic is determined by the complexity of diagnosis, the rarity of the disease, limited awareness among healthcare professionals, high mortality, and the lack of pathogenetic treatment. These factors contribute to poor prognosis and reduced quality of life for patients, emphasizing the need for a deeper understanding of the disease’s pathogenesis and the development of new therapeutic approaches. This article reviews current knowledge on the pathogenesis, clinical manifestations, diagnostic methods, histological and genetic aspects, as well as treatment prospects and disease outcomes. The discussion of key issues related to tufting enteropathy aims to improve diagnostic accuracy and therapeutic outcomes, highlighting the need for further research to develop innovative treatments.