Search results for "Jejunal biopsy"
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Defective jejunal brush border membrane sodium/proton exchange in association with lethal familial protracted diarrhoea.
1990
The spectrum of clinical disease associated with specific defects in jejunal brush border membrane sodium/proton exchange is poorly defined and only two patients have been described so far. Jejunal brush border membrane transport studies were performed in a boy who presented with lethal familial protracted diarrhoea in the first few days of life. Using jejunal brush border membrane vesicles prepared from conventional jejunal biopsy specimens, initial sodium uptake under H+ gradient conditions was found to be only 6% of the mean control value. In contrast, sodium stimulated glucose uptake was normal. Our data confirm the importance of a congenital defect in this exchanger as a cause of sever…
DEFECTIVE JEJUNAL BRUSH BORDER Na+/H+ EXCHANGE IN LETHAL FAMILIAN PROTRACTED DIARRHOEA
1989
The clinical spectrum of disease associated with the recently described defect in jejunal brush border membrane (BBM) Na+/H+ exchange remains poorly defined. We describe a further, lethal case of protracted diarrhoea in a child from a family in whom 2 previous siblings died of protracted diarrhoea at 2 and 11 months. The patient, a boy, was born at term weighing 2.9 kg and was admitted at 6d with profuse watery diarrhoea, severe dehydration and metabolic acidosis. Parenteral nutrition was started but the diarrhoea persisted, and he developed severe necrotising enterocolitis requiring an ileostomy. A high-output secretory diarrhoea persisted during nil by mouth (ileostomy fluid mmol/l: Na+ 1…