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Author Spotlight: Investigating the Effects of Compounds on Intestinal Tissue Using 3D Human Cell Line Models
Published on: September 1, 2023
Carbohydrate malabsorption mimicking immune dysregulation: A histological challenge
Seyma Eroglu1, Sara Nandolia2, Yujie Zhang3,4
1National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
Abstract:
We report a case of neonatal-onset intractable diarrhea, where the patient's histologic findings suggested immune dysregulation. However, genetic testing revealed compound heterozygous variants in the SLC5A1 gene. This case report adds to the existing literature by demonstrating that severe carbohydrate malabsorption can cause inflammatory histological features possibly secondary to small intestinal bacterial overgrowth.
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