Microvillus Inclusion Disease (MVID), also known as Davidson's disease or congenital microvillus atrophy, is a rare genetic disorder that affects the small intestine. It is characterized by severe diarrhea and malabsorption, leading to life-threatening dehydration and malnutrition in affected infants.
The term Microvillus Inclusion Disease refers to the microscopic changes observed in the intestinal cells of affected individuals. Microvilli are tiny finger-like projections on the surface of intestinal cells that aid in nutrient absorption. In MVID, these microvilli are absent or significantly reduced, and instead, abnormal inclusion bodies called microvillus inclusions are present within the cells.
Symptoms of Microvillus Inclusion Disease typically appear within the first few days of life. The most prominent symptom is profuse watery diarrhea, which can lead to dehydration and electrolyte imbalances. Infants with MVID often fail to thrive and experience poor weight gain. They may also exhibit vomiting, abdominal distension, and frequent infections.
Diagnosis of Microvillus Inclusion Disease involves a combination of clinical evaluation, laboratory tests, and genetic analysis. Stool tests may reveal high levels of fat and electrolyte imbalances. Intestinal biopsy is crucial for confirming the presence of microvillus inclusions and ruling out other causes of chronic diarrhea.
Treatment for Microvillus Inclusion Disease primarily focuses on managing the symptoms and preventing complications. Infants with MVID often require intravenous fluids to correct dehydration and maintain electrolyte balance. Nutritional support through specialized formulas or total parenteral nutrition (TPN) may be necessary to ensure adequate nutrition. In some cases, small bowel transplantation may be considered as a treatment option.
Prognosis for individuals with Microvillus Inclusion Disease is generally poor. The condition is chronic and requires lifelong management. Despite medical interventions, many affected individuals experience persistent diarrhea and malabsorption, leading to long-term complications such as growth failure and developmental delays.
Research efforts are ongoing to better understand the underlying genetic mutations causing Microvillus Inclusion Disease and develop potential targeted therapies. Early diagnosis and comprehensive medical care remain crucial in improving the quality of life for individuals living with this rare disorder.