A CLINICAL CASE OF A FAMILIAL DISEASE INVOLVING MICROVILLI. THE EXPERIENCE OF LEADING A CHILD ON THE SITE
Abstract
Microvillous inclusion disease is an autosomal recessive hereditary enteropathy due to heterogeneous mutations in the myosin Vb gene. The clinical picture includes severe diarrhea, which results in the development of metabolic acidosis and hypotonic dehydration, impaired absorption of nutrients, protein-energy malnutrition, renal pathology, liver damage, and psychomotor retardation. Morphologically, the disease is characterized by the absence or shortening of microvilli, as well as the presence of inclusions and accumulation of granules in the apical part. For several years, researchers believed that inclusions in microvilli were formed as a result of impaired exocytosis. Further studies showed that inclusions are formed as a result of apical endocytosis of the brush border. Abnormal structure of enterocyte microvilli leads to impaired absorption of nutrients and fluid and contributes to the development of severe chronic diarrhea, electrolyte disturbances, and dehydration.
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