1996
DOI: 10.1016/s0140-6736(96)90941-1
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Congenital enterocyte heparan sulphate deficiency with massive albumin loss, secretory diarrhoea, and malnutrition

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Cited by 145 publications
(71 citation statements)
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“…30 The involvement of HS in PLE was also seen in a study of three infants with normal small bowel biopsies, who had massive PLE from birth and loss of HS from the basolateral enterocyte membrane. 31 HS loss from the glomerular basement membrane leads to albumin leakage across the vascular endothelium in kidney [45][46][47][48] and thus enterocyte HS deficiency may be analogous to congenital nephrotic syndrome. 47 The findings here suggest that CDG-1c causes a similar loss of HS from the enterocyte basolateral membrane.…”
Section: Discussionmentioning
confidence: 99%
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“…30 The involvement of HS in PLE was also seen in a study of three infants with normal small bowel biopsies, who had massive PLE from birth and loss of HS from the basolateral enterocyte membrane. 31 HS loss from the glomerular basement membrane leads to albumin leakage across the vascular endothelium in kidney [45][46][47][48] and thus enterocyte HS deficiency may be analogous to congenital nephrotic syndrome. 47 The findings here suggest that CDG-1c causes a similar loss of HS from the enterocyte basolateral membrane.…”
Section: Discussionmentioning
confidence: 99%
“…29 -31 Specific enzymatic digestions confirm that this technique detects HS in epithelial and endothelial cells, and chondroitin and dermatan sulfates within the mucosal tissues. 29,31 Immunostaining of syndecan-1, the major HS core protein, was done as previously described, 17 using mAb MCA681H (Serotec, Kidlington, UK) specific for human syndecan-1.…”
Section: Immunohistochemical and Histochemical Analysismentioning
confidence: 99%
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“…Decrease in HSPG or lack of HSPG in the basal membrane results in protein loss from the intestines into the lumen (20,21). Murch et al (22) found congenital intestinal heparan sulphate deficinecy in a patient who presented with diarrhea, nutritional disorder and excessive albumin loss from the intestines. In tissue culture and mouse models, it has been shown that increased venous pressure, increase in inflammatory cytokines including INF α and TNF α and loss of HSPG in the basal membrane cause protein loss from the intestines separately.…”
Section: Pathophysiologymentioning
confidence: 99%
“…33 A new syndrome of congenital heparan sulphate deficiency was also described. 34 The advent of parenteral nutrition was a vital preliminary for survival among these children with intractable diarrhoea after which small intestinal biopsy could be undertaken. 35 It was in…”
Section: Technological Advances In Diagnosismentioning
confidence: 99%