Seventeen paediatric patients with immunodeficiency syndromes (10 with selective IgA deficiency, four with panhypogammaglobulinaemia, and three with selective T cell deficiency) were investigated for bacterial overgrowth of the small intestine and gut permeability to macromolecules. Five of 12 patients showed viable bacterial counts of more than 2 x 105/ml in jejunal fluid. Bacterial overgrowth was also confirmed indirectly by breath hydrogen determination, which was higher than 10 ppm in four of the five patients with positive jejunal culture. Gut permeability to lactulose and L-rhamnose was abnormal in 16 of the 17 immunodeficient patients, who also had higher mean urinary excretion ratios than control subjects -mean (SD) values were 0216 (0.160) and 0-029 (0.002), respectively. These studies indicate that bacterial overgrowth of the small intestine is a common feature in immunodeficient patients, regardless of the immunological abnormality. Moreover, these patients have an increased gut permeability to macromolecules.

DiGeorge anomaly (DGA) represents a heterogeneous entity, which is often sporadic, although familial cases and the association with monosomy 22q11 have been reported. Recently, a few patients with 10p deletion syndrome and immunological and other laboratory findings similar to DGA have been described. We report on an additional case of partial DGA associated with 10p deletion.

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ExtractTen patients affected by congenital deficiency of intestinal sucrase and isomaltase activities were studied. The intraluminal a-amylolysis of amylopectin was found to be normal in these patients. It is incomplete during the 1st year of life, both in patients and in controls, as a consequence of the lower a-amylase activity in this age group.Maltotriose was well tolerated in two normal controls ages 32 and 3 months and in one 31-month-old patient: in these subjects an oral tolerance test with the trisaccharide was followed by a rapid increase of blood glucose (46-58 mg/100 ml) and did not cause diarrhea. However, in a 6-month-old patient fermentative diarrhea and low increase of blood glucose (24 mg/100 ml) followed oral load with maltotriose. In all patients, enzyme assays on intestinal biopsy specimens showed that the glucamylase activity of the heat-resistant maltase(s) was normal, while that of the sucrase-isomaltase complex was decreased.These results suggest that starch malabsorption in congenital sucrose and isomaltose intolerance results from deficiency of the enzymatic activities of the sucrase-isomaltase complex involved in starch digestion. SpeculationMalabsorption of starch can be expected to result from: (/) deficiency of pancreatic amylase; (2) congenital or acquired deficiency of the glucosidase activities of the brush border; (3) glucose malabsorption; (4) higher intestinal flow rate. The results in this study show that one particular form of starch malabsorption is a consequence of congenital deficiency of the activities of the sucrase-isomaltase complex involved in starch digestion. The methods used here should prove to be useful also in the investigation of other forms of starch malabsorption.