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Published on: May 2, 2018
[Microvillus inclusion disease, a rare cause of severe congenital diarrhea]
M J Jacobs1, J J M Tolboom, D K Bosman
1Afd. Kindergeneeskunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
Abstract:
To date, microvillus inclusion disease (MID) has been diagnosed in six Dutch patients. It is a rare autosomal recessive hereditary intestinal disorder mostly presenting with malabsorption and severe secretory diarrhoea from birth. The diagnosis is confirmed by electron microscopy of intestinal mucosal biopsies, which show characteristic intracytoplasmic vesicles containing clearly recognisable microvilli and irregularly distributed microvilli in the brush border. The two clinical forms of the disease that have been recognised internationally, a 'congenital' and a 'late-onset' form of MID, have also been observed in the Dutch patients. At the last follow-up five patients had died, the sixth was 17 years old and alive. The pathogenesis and genetics of MID are, as yet, unknown. Eventually, all patients die from complications of the disease, notably from the total parenteral nutrition. The only chance of survival is intestinal or combined liver-intestinal transplantation.
Insights
Microvillus inclusion disease (MID) is a rare, inherited intestinal disorder causing severe diarrhea and malabsorption from birth. Currently, intestinal or liver-intestinal transplantation is the only hope for survival.
Area of Science:
- Gastroenterology
- Pediatric Gastroenterology
- Genetics
Context:
- Microvillus inclusion disease (MID) is a rare, autosomal recessive hereditary intestinal disorder.
- It primarily affects infants, presenting with severe secretory diarrhea and malabsorption from birth.
- Diagnosis relies on electron microscopy of intestinal biopsies revealing characteristic microvillus abnormalities.
Purpose:
- To describe the clinical presentation, diagnosis, and outcomes of microvillus inclusion disease (MID) in Dutch patients.
- To highlight the challenges in managing this rare intestinal disorder.
- To underscore the limited survival options for affected individuals.
Summary:
- Six Dutch patients with microvillus inclusion disease (MID) were diagnosed, exhibiting both congenital and late-onset forms.
- Electron microscopy confirmed the diagnosis by identifying intracytoplasmic vesicles and brush border abnormalities.
- Five of the six patients died due to complications, primarily from total parenteral nutrition; one survived to 17 years.
Impact:
- This study provides insights into the presentation and poor prognosis of MID in a Dutch cohort.
- It emphasizes the critical need for further research into the pathogenesis and genetics of MID.
- Highlights intestinal or combined liver-intestinal transplantation as the sole potential life-saving intervention for MID patients.
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