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Pathophysiology in Microvillus inclusion disease

K Reinshagen1, H Naim, G Heusipp

  • 1Kinderchirurgische Klinik, Universitätsklinikum Mannheim. konrad.reinshagen@kch.ma.uni-heidelberg.de

Zeitschrift Fur Gastroenterologie
|August 12, 2006
PubMed

Insights

Microvillus inclusion disease (MID) causes severe watery diarrhea in newborns. This review covers its pathology, current pathogenetic hypotheses, and treatment options beyond intestinal transplantation.

Area of Science:

  • Gastroenterology
  • Pediatric Pathology
  • Molecular Biology

Background:

  • Microvillus inclusion disease (MID) is a rare congenital enteropathy.
  • Characterized by severe watery diarrhea from birth.
  • Pathological hallmarks include villus atrophy and PAS-positive inclusions.

Purpose of the Study:

  • To review current understanding of MID pathogenesis.
  • To discuss diagnostic criteria.
  • To explore therapeutic strategies.

Main Methods:

  • Review of existing literature on Microvillus inclusion disease.
  • Analysis of light and electron microscopy findings.
  • Discussion of molecular and genetic data.

Main Results:

  • Electron microscopy reveals characteristic microvillus inclusion bodies (MIBs) and secretory granules.
  • Specific molecular defects underlying MID are still under investigation.
  • Pathogenesis involves defects in apical enterocyte differentiation.

Conclusions:

  • MID diagnosis relies on characteristic histopathological findings.
  • Further research is needed to elucidate molecular causes.
  • Management includes supportive care and consideration of small bowel transplantation.

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