Pathophysiology in Microvillus Inclusion Disease

Zusammenfassung

Die Mikrovilluseinschlusskörperchenerkrankung (MID) ist eine angeborene Durchfallserkrankung. Der wässrige Durchfall tritt zumeist erstmals an den ersten Lebenstagen auf. Die charakteristischen pathologischen Veränderungen sind lichtmikroskopisch eine Villusatrophie sowie eine Anhäufung PAS-positiven Materials in den Enterozyten nahe der apikalen Membran. Elektronenmikroskopisch findet man neben einer hohen Dichte sekretorischer Granula nahe der apikalen Membran bei Enterozyten der Kryptenregion die pathognomonischen Mikrovilluseinschlusskörperchen, die überwiegend in Enterozyten der Villusregion nachweisbar sind. Bisher sind die zugrunde liegenden molekularen Defekte nicht geklärt. Wir diskutieren in dieser Arbeit die aktuellen Hypothesen zur Pathophysiologie der Erkrankung und die Therapieoptionen, die sich aus den bisherigen Erkenntnissen ergeben.

Abstract

Microvillus inclusion disease (MID) is a congenital disorder with the clinical signs of watery diarrhea often beginning in the first days of life. The main pathological features of the disease include a villus atrophy and an accumulation of periodic acid-Schiff (PAS)-positive material within the apical cytoplasm of enterocytes on the light microscopy level. Electron microscopic criteria are pathognomonic consisting of an increased amount of secretory granules preferentially in crypt epithelial cells and of the presence of microvillus inclusion bodies (MIBs) which are most frequently found in villus enterocytes. Until now the basic molecular defects have not been disclosed completely. In this review we discuss the actual pathogenetic hypothesis and the therapeutic options besides small bowel transplantation.

Schlüsselwörter

Pädiatrische Gastroenterologie - angeborene Durchfallserkrankungen - Mikrovilluseinschlusskörperchenerkrankung

Key words

Pediatric gastroenterology - hereditary diarrhea - microvillus inclusion bodies

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