TY - JOUR
T1 - Microvillusinclusieziekte, een zeldzame oorzaak van ernstige aangeboren diarree
AU - Jacobs, M. J.
AU - Tolboom, J. J. M.
AU - Bosman, D. K.
AU - van Haelst, U. J. G. M.
AU - Bult, P.
AU - Kneepkens, C. M. F.
AU - Taminiau, J. A. J. M.
PY - 2002
Y1 - 2002
N2 - 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
AB - 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
M3 - Article
C2 - 12190012
SN - 0028-2162
VL - 146
SP - 1448
EP - 1452
JO - Nederlands Tijdschrift voor Geneeskunde
JF - Nederlands Tijdschrift voor Geneeskunde
IS - 31
ER -