Microvillus inclusion disease

Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.

Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis).

In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition).

A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.

Other names

Congenital enteropathy; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Congenital microvillous atrophy; Davidson disease; Familial protracted enteropathy; Intractable diarrhea of infancy; Microvillous atrophy; Microvillous inclusion disease; Microvillus atrophy with diarrhea 2; MVID

Inheritance pattern

Autosomal recessive

Related genes

MYO5B; STX3

Source: MedlinePlus Genetics, U.S. National Library of Medicine.