S. De Potter

Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.

We report on eight children with severe diarrhea beginning in the first 6 months of life (< 1 month in six cases), who had a number of features in common. All were small for gestational age and had an abnormal phenotype, including facial dysmorphism, hypertelorism, and woolly, easily removable hair with trichorhexis nodosa. Two were products of consanguineous marriages. Severe secretory diarrhea persisted despite bowel rest (n = 7). Jejunal biopsy specimens showed total or subtotal villous atrophy with crypt necrosis, and inconstant T-cell activation in some cases (n = 3). Colon biopsy specimens showed moderate nonspecific colitis. All the patients had defective antibody responses despite normal serum immunoglobulin levels, and defective antigen-specific skin tests despite positive proliferative responses in vitro. Three had monoclonal hyper-immunoglobulinemia A. The course was marked by diffuse erythroderma in two cases and mental retardation in three. Treatment included bowel rest, intravenous administration of immune globulins, administration of corticosteroids (n = 6) and cyclosporine (n = 2), and bone marrow transplantation (n = 1). Five patients died between the ages of 2 and 5 years (of sepsis or cirrhosis), two are being fed enterally, and one continues to receive total parenteral nutrition. The cause of the combined low birth weight, dysmorphism, severe diarrhea, trichorrhexis, and immunodeficiency is unclear. These features may constitute a specific syndrome within the group of intractable diarrheas of infancy.

Home parenteral nutrition in children: 8 years of experience with 112 patients.

It is essential that children on prolonged parenteral nutrition for anatomical or functional loss of small bowel should enjoy a quality of life which is as normal as possible. Their return home is a major factor in this. Over the past 8 years, 112 children were able to remain at home on cyclic parenteral nutrition. Forty-nine of them are no longer on home parenteral nutrition (HPN), 45 are still on HPN, and 18 have died. Growth and quality of life were good in most cases. Most of the complications were from infection, 1 septicaemia per 594 days on HPN. In the light of these results, HPN seems to be the best option for children requiring prolonged parenteral nutrition, although it can only be considered within the framework of a specialized centre, which ensures patient follow-up, and provides the logistical support required for this high-technology treatment.

Iron overload in children receiving prolonged parenteral nutrition

This study was carried out to evaluate the iron status of 30 children aged 1 to 18 years who had been receiving total parenteral nutrition (TPN) for an average of 43 months with iron intakes of 100 micrograms/kg per day. Iron status was assessed by assaying the serum iron and ferritin levels and the transferrin saturation coefficient as a function of iron intake. Liver biopsy specimens were taken from 13 children. Twelve children had serum ferritin levels greater than 300 ng/ml, and 8 had levels greater than 800 ng/ml. The serum ferritin level and the transferrin saturation coefficient were positively correlated (r = 0.81; p < 0.01). The serum ferritin level was positively correlated with TPN duration and with the total iron intake (r = 0.68; p < 0.01). Of the 13 liver biopsy specimens, six showed signs of iron deposition. We conclude that there is a risk of iron overload in children receiving 100 micrograms iron per kilogram of body weight per day by TPN, indicating that intake should be reduced.

Home parenteral nutrition in children: bioavailability of vitamins in binary mixtures stored for 8 days

Vitamin supply in children on long-term parenteral nutrition depends on the specific age-related needs and on the bioavailability of vitamins when introduced into nutritional bags. The present study aimed to investigate the vitamin status in children on home TPN receiving nutritional bags which had been stored during a prolonged period of 8 instead of 4 days and where the new vitamin preparation Cernevit has been introduced. 19 children aged from 5 months to 11 years receiving home parenteral nutrition, for 42 months on average, were studied. Daily vitamin supply for children above 2 years of age was: A 1050 ug, D 5.5 ug, E 10.2 mg plus 0.6 mg/g lipid (Intralipid), C 125 mg, B1 3.5 mg, B2 4.1 mg, B6 4.5 mg, biotine 69 mug; children who were younger than 2 years received half of these intakes. Water soluble vitamin status was only measured in children over 3 years old. Plasma levels remained stable and adequate for age, for most of the studied vitamins. Vitamin A concentration was inferior to 200 mug/l in 1 patient with hepatopathy. Plasma concentrations of vitamin E, which were initially below 6 mg/l in 4 patients, returned to normal during the study. Plasma levels of vitamin C were below 6.2 mg/l in several infants either temporarily (5 patients) or during the whole study period (2 patients). These results support a prolongation of the intervals between preparing batches of nutritional bags and also between deliveries. This results in a considerable reduction of costs, provided that plasma vitamin levels, specially vitamin C, are regularly monitored.

Glucose versus glucose-fat mixture in the course of total parenteral nutrition: effects on substrate utilisation and energy metabolism in malnourished children

Energy substrate utilisation was evaluated over 21 days in two groups of malnourished children on total parenteral nutrition (TPN). Non-protein energy was infused as glucose (Group A; n = 7) or as a glucose/fat (1:1 v/v) mixture (Group B; n = 10). Results indicated that: 1) net glucose oxidation was related to glucose intake; 2) glucose storage was elevated in group A; 3) net fat synthesis occurred earlier in group B together with constant net fat oxidation which was inversely related to glucose intake (r = -0.89, p < 0.001); 4) lipogenesis from glucose occurred only when glucose intake exceeded 19.3g/kg/d; 5) energy expenditure increased by 36% (group A) and 18% (group B) during renutrition; 6) 73% and 82% of the energy administered in excess of energy required was stored in group A and B respectively. Hence, glucose/fat infusion appears to be more energy-efficient than glucose-alone in TPN of malnourished children.

Inappropriate iron intake in children on long-term parenteral nutrition: outcome after iron withdrawal.

Inappropriate parenteral iron intake in children on long-term parenteral nutrition can be responsible for iron overload. This study was carried out to monitor iron status changes when iron parenteral intake was stopped in case of iron overload. Seven children with serum ferritin concentrations above 800 ng/ml (6 with documented liver iron overload) were prospectively studied after total discontinuation of parenteral iron intake and without chelation therapy. Iron status was assessed, by means of ferritin and iron plasma concentrations, 8-15 months (T(1)) and 24-30 months (T(2)) after withdrawal of parenteral iron. Ferritin and iron concentrations declined at T(1), or T(2) in all but two children. At T(2) ferritin and iron concentrations were significantly lower (P < 0.05) than before iron parenteral discontinuation with a yearly reduction of 22 +/- 15% and 15 +/- 16%, respectively, for ferritin concentration and iron concentration. This fall in serum ferritin concentration is comparable to thalassemic subjects after bone marrow transplantation. The total withdrawal of parenteral iron intake improves iron status in children with iron overload. Nevertheless, iron overload related parenteral nutrition should be avoided by lowering iron intake in case of long-term total parenteral nutrition and by careful monitoring.