DGAT1-associated protein-losing enteropathy: the first clinical case report in Russia

Abstract

DGAT1-associated protein-losing enteropathy is a rare autosomal recessive disorder related to congenital diarrhea and associated with a mutation in the DGAT1 gene that encodes the enzyme DGAT1, which is responsible for the final step of triglyceride resynthesis in enterocytes. With insufficient activity of DGAT1 enzyme, fatty acids and diacylglycerols accumulate in the enterocyte, having a cytotoxic effect and causing enterocyte apoptosis. As a result, atrophic enteropathy develops, which is manifested as protein-losing diarrhea from the first months of life, iron deficiency anemia, and vitamin D deficiency. The currently known treatment methods for DGAT1-associated enteropathy are a low-fat diet and parenteral nutrition. This article presents the first genetically confirmed clinical case of DGAT1-associated protein-losing enteropathy in the Russian Federation. Key words: DGAT1, enteropathy, congenital diarrhea, protein-losing diarrhea, children