Microvillous inclusion disease

autorecessive

Microvillous inclusion disease (MVID) is a rare congenital disorder that affects the intestines, leading to severe, chronic diarrhea and malabsorption. It is also known as congenital microvillus atrophy. The disease is typically diagnosed in infancy and can be life-threatening if not managed properly.

Pathophysiology

MVID is characterized by the presence of microvillus inclusions within the epithelial cells of the small intestine. These inclusions are abnormal structures that result from the improper formation and function of microvilli, which are tiny, finger-like projections on the surface of epithelial cells that increase the surface area for absorption. The defective microvilli lead to impaired nutrient absorption and chronic diarrhea.

Genetics

The disease is usually inherited in an autosomal recessive manner. Mutations in the MYO5B gene, which encodes the protein myosin Vb, are commonly associated with MVID. This protein is crucial for the proper trafficking of vesicles within cells, and its dysfunction leads to the formation of microvillus inclusions.

Clinical Presentation

Infants with MVID typically present with severe, watery diarrhea shortly after birth. Other symptoms may include:

• Failure to thrive
• Dehydration
• Electrolyte imbalances
• Malnutrition

Diagnosis

Diagnosis of MVID is based on clinical presentation, histological examination of intestinal biopsies, and genetic testing. The presence of microvillus inclusions in enterocytes observed under an electron microscope is a key diagnostic feature.

Treatment

There is no cure for MVID, and treatment focuses on managing symptoms and complications. This may include:

• Total parenteral nutrition (TPN) to provide essential nutrients intravenously
• Management of dehydration and electrolyte imbalances
• Potential small bowel transplantation in severe cases

Prognosis

The prognosis for individuals with MVID varies. With appropriate management, some patients can achieve a relatively stable condition, but the disease can be life-threatening, especially in cases where complications arise or treatment is not adequately managed.

Related Pages

• Microvillus
• Autosomal recessive
• MYO5B
• Total parenteral nutrition
• Small bowel transplantation

See Also

• Congenital disorders of glycosylation
• Intestinal atresia
• Short bowel syndrome

External Links

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