[Microvillus inclusion disease, a rare cause of severe congenital diarrhea].
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.
Jacobs
M J
MJ
Afd. Kindergeneeskunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
Tolboom
J J M
JJ
Bosman
D K
DK
van Haelst
U J G M
UJ
Bult
P
P
Kneepkens
C M F
CM
Taminiau
J A J M
JA
D000293:Adolescent; D003968:Diarrhea, Infantile / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology*; D018450:Disease Progression; D006801:Humans; D002479:Inclusion Bodies; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000473:pathology / Q000648:ultrastructure; D008286:Malabsorption Syndromes / Q000151:congenital / Q000175:diagnosis / Q000209:etiology; D008871:Microvilli / Q000473:pathology; D011379:Prognosis