Familial microvillous atrophy: a clinicopathological survey of 23 cases.
Twenty-three cases of microvillous atrophy were reviewed to determine clinical and morphological characteristics of the disease. Congenital and late-onset forms of presentation were clearly identified in which the late-onset cases appeared to have a better prognosis. Three different, and distinctive, appearances of the proximal small intestinal mucosa were found. Careful orientation of mucosal samples allowed a temporal sequence of events to be delineated in which the first morphological abnormality to be detected in the epithelium was the accumulation of "secretory granules"; microvillous inclusions were seen in older cells in the upper villous region. It is suggested that, in familial microvillous atrophy, diarrhoea and disorganisation of the brush border assembly occur as a consequence of a more fundamental defect that affects the intracellular traffic of certain cell components, as indicated by the accumulation of "secretory granules."
EM Department, Queen Elizabeth Hospital for Children, London, U.K.
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AD
Phillips
J
J
Schmitz
D000626:Aminopeptidases / Q000032:analysis; D001284:Atrophy; D018826:CD13 Antigens; D003968:Diarrhea, Infantile / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D007413:Intestinal Mucosa / Q000473:pathology* / Q000648:ultrastructure; D007421:Intestine, Small / Q000473:pathology*; D043322:Lactase; D008297:Male; D008871:Microvilli / Q000201:enzymology / Q000473:pathology* / Q000648:ultrastructure; D010289:Parenteral Nutrition, Total; D012189:Retrospective Studies; D013393:Sucrase / Q000032:analysis; D000520:alpha-Glucosidases / Q000032:analysis; D001616:beta-Galactosidase / Q000032:analysis
D043322:Lactase; D000520:alpha-Glucosidases; D001616:beta-Galactosidase; D013393:Sucrase; D000626:Aminopeptidases; D018826:CD13 Antigens