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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

Summary

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

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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.