Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review

[摘要] IntroductionCongenital diarrhea is a rare inherited intestinal disease characterized by persistent and severe diarrhea and malabsorption in the first few weeks after birth, which can be life-threatening. Some congenital diarrheal diseases are associated with mutations in the diacylglycerol acyltransferase 1 (DGAT1) gene.Case descriptionsThis study delineated 2 cases of diarrhea and growth retardation, subsequently confirmed as congenital diarrhea via genetic testing, revealing that the etiology involved compound heterozygous mutations in the DGAT1 gene.Diagnostic assessmentsHigh-MCT milk powder did not obtain an ideal outcome, whereas low-fat diets improved the symptoms of diarrhea and increased the body weigths.DisscussionThe two cases facilitated our understanding of the clinical features of, and treatments for, patients harboring a DGAT1 mutation and enriched the existing DGAT1 mutation database.

[发布日期] 2023-10-16

[关键词] diarrhea;congenital diarrhea;diacylglycerol acyltransferase 1 gene;growth retardation;hypoalbuminemia;DGAT1 deficiency