Congenital enterocyte heparan sulphate deficiency with massive albumin loss, secretory diarrhoea, and malnutrition.
BACKGROUND
The molecular basis of protein-losing enteropathy is unknown. However it has been shown that sulphated glycosaminoglycans may be important in regulating vascular and renal albumin loss.


METHODS
We describe three baby boys who presented within the first weeks of life with massive enteric protein loss, secretory diarrhoea, and intolerance of enteral feeds. All required total parenteral nutrition and repeated albumin infusions. No cause could be found in any case despite extensive investigations, including small intestinal biopsy sampling, which were repeatedly normal.


RESULTS
By specific histochemistry, we detected gross abnormality in the distribution of small intestinal glycosaminoglycans in all three infants, with complete absence of enterocyte heparan sulphate. The distribution of vascular and lamina propria glycosaminoglycans was, however, normal.


CONCLUSIONS
The presentation of these infants suggests that enterocyte heparan sulphate is important in normal small intestinal function.
Murch
S H
SH
University Department of Paediatric Gastroenterology, Royal Free Hospital, London, UK.
Winyard
P J
PJ
Koletzko
S
S
Wehner
B
B
Cheema
H A
HA
Risdon
R A
RA
Phillips
A D
AD
Meadows
N
N
Klein
N J
NJ
Walker-Smith
J A
JA
D000418:Albumins / Q000378:metabolism*; D003968:Diarrhea, Infantile / Q000209:etiology*; D006497:Heparan Sulfate / Q000172:deficiency*; D006801:Humans; D007228:Infant Nutrition Disorders / Q000209:etiology*; D007231:Infant, Newborn; D007421:Intestine, Small / Q000378:metabolism / Q000473:pathology; D008297:Male; D011504:Protein-Losing Enteropathies / Q000151:congenital* / Q000209:etiology / Q000378:metabolism / Q000473:pathology
D000418:Albumins; D006497:Heparan Sulfate