Thelansis

  Microvillus inclusion disease (MVID) is a rare inherited and invariably deadly enteropathy characterized by severe, intractable secretory diarrhea and nutrient malabsorption. This diarrhea becomes so abundant that within 24H, the children can lose up to 30% of their body weight, resulting in profound metabolic acidosis and severe dehydration. MVID is diagnosed by evaluating symptoms, excluding more common causes of diarrhea, and evaluating intestinal biopsies. Intestinal biopsies of patients with MVID show villus hypoplasia in the small intestine but no signs of infection or inflammation. MVID is caused by loss of function changes (mutations) in the myosin Vb (Myo5b) gene, a molecular motor gene responsible for the traffic of proteins into the brush border of epithelial cells. Mutations cause most cases of MVID in Myo5b. However, mutations in syntaxin 3, a gene for a SNARE protein responsible for vesicle fusion with the membrane, have been reported in some patients with MVID with l

 Microvillus inclusion disease (MVID) is a rare inherited, and invariably deadly enteropathy, characterized by severe, intractable secretory diarrhea and nutrient malabsorption. This diarrhea becomes so abundant that within 24H, the children can lose up to 30% of their body weight, resulting in profound metabolic acidosis and severe dehydration. MVID is diagnosed by evaluating symptoms, excluding more common causes of diarrhea, and evaluating intestinal biopsies. Intestinal biopsies of patients with MVID show villus hypoplasia in the small intestine but no signs of infection or inflammation. MVID is caused by loss of function changes (mutations) in the myosin Vb (Myo5b) gene, a molecular motor gene responsible for the traffic of proteins into the brush border of epithelial cells. Mutations cause most cases of MVID in Myo5b. However, mutations in syntaxin 3, a gene for a SNARE protein responsible for vesicle fusion with the membrane, have been reported in some patients with MVID with la