Lethal familial protracted diarrhoea

Lethal familial protracted diarrhoea.

24 children with severe protracted diarrhoea from 10 families, in which at least one sibling was affected, are reported. In two families the siblings were from 1st-cousin marriages, in one family both parents had unaffected children from previous marriages, and in another family the mother had a normal daughter from an earlier marriage. The onset of the diarrhoea was on the first day of life in...

Defective jejunal brush border membrane sodium/proton exchange in association with lethal familial protracted diarrhoea.

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 pre...

Protracted diarrhoea in infancy.

Protracted diarrhoea in infancy

1 of 2 categories according to whether a specific diagnosis was established or not. A diagnosis (category 1) was established in 59 (72 %), the commonest diagnoses being coeliac disease (33 2 %), secondary disaccharide intolerance (12 2%), and cows' milk protein intolerance (11 3 %). Other diagnoses included primary sucrase-isomaltase deficiency, Shwachman's syndrome, ulcerative colitis, ganglio...

Loperamide in severe protracted diarrhoea.

Six infants with severe life-threatening protracted diarrhoea were treated with loperamide. Steady-state perfusion studies of the jejunum showed that in 2 of them the small intestine was in a net secretory state with respect to water, and in the others this was inferred from the fact that the diarrhoea persisted despite nothing by mouth. Loperamide resulted in a prompt and impressive improvemen...