Disease Information for Microvillous familial diarrhea/Davidson's synd

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Clinical Manifestations
Signs & Symptoms
Chronic Diarrhea in a Child
Diarrhea
Diarrhea and Weight Loss
Diarrhea in Children
Diarrhea, chronic
Failure to Thrive
Failure to Thrive Child
Weight Loss
Associated Diseases & Rule outs
Associated Disease & Complications
Microvillous Familial Diarrhea
Synonyms
Synonym
Microvillous familial diarrhea Davidson's synd, Synonym/Davidson's syndrome
Definition

Microvillus Inclusion Disease; Congenital Familial Protracted Diarrhea; Congenital Microvillus Atrophy; Davidson"s Disease; Familial Enteropathy, Microvillus; Microvillus Inclusion Disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth; The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of necessary nutrients due to incomplete development (hypoplasia) and/or degeneration (atrophy) of certain cells of the wall of the small intestine (eg, hypoplastic villus atrophy, defective brush-border assembly and differentiation); In infants with Microvillus Inclusion Disease, chronic diarrhea and malabsorption may result in severe dehydration, deficiency of necessary nutrients (malnutrition), a failure to grow and gain weight at the expected rate (failure to thrive), and/or disturbance of the body’s balance of acids and bases, which is essential in regulating the body’s composition of bodily fluids (acidosis); Microvillus Inclusion Disease is inherited as an autosomal recessive genetic trait; ---------[NORD 2005]-----------------------------------DAVIDSON DISEASE; MICROVILLUS ATROPHY, CONGENITAL; CONGENITAL FAMILIAL PROTRACTED DIARRHEA WITH ENTEROCYTE BRUSH-BORDER ABNORMALITIES; INTRACTABLE DIARRHEA OF INFANCY; described a group of infants who presented with an apparently familial enteropathy characterized by protracted diarrhea from birth and hypoplastic villus atrophy; Electron microscopic examination of surface enterocytes in a jejunal biopsy specimen from 1 of the patients showed peculiar intracytoplasmic inclusions composed of neatly arranged brush-border microvilli; family history of infantile/neonatal diarrhea; death often at ages varying from 9 to 18 months; Pathology suggests that microvillus inclusion disease may result from defective brush-border assembly and differentiation; it may represent an inborn error of intracellular transport, leading to aberrant assembly of the components of the enterocyte surface membrane; Rectal biopsy was proposed as a dependable and relatively easy method for early diagnosis;

late onset appeared to have a better prognosis; They concluded that the first morphologic abnormality to be detected in the intestinal epithelium was accumulation of "secretory granules"; microvillus inclusions were seen in older cells in the upper villous region; one suggested that a fundamental defect affects the intracellular traffic of certain cell components; Aspirin in low dosage decreased stool output in one patient; All patients were receiving total parenteral nutrition (TPN); --------[OMIM 2005]---------

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