Introduction of gluten, HLA status, and the risk of celiac disease in children.

BACKGROUND: The relationship between the risk of celiac disease and both the age at which gluten is introduced to a child's diet and a child's early dietary pattern is unclear. METHODS: We randomly assigned 832 newborns who had a first-degree relative with celiac disease to the introduction of dietary gluten at 6 months (group A) or 12 months (group B). The HLA genotype was determined at 15 months of age, and serologic screening for celiac disease was evaluated at 15, 24, and 36 months and at 5, 8, and 10 years. Patients with positive serologic findings underwent intestinal biopsies. The primary outcome was the prevalence of celiac disease autoimmunity and of overt celiac disease among the children at 5 years of age. RESULTS: Of the 707 participants who remained in the trial at 36 months, 553 had a standard-risk or high-risk HLA genotype and completed the study. At 2 years of age, significantly higher proportions of children in group A than in group B had celiac disease autoimmunity (16% vs. 7%, P=0.002) and overt celiac disease (12% vs. 5%, P=0.01). At 5 years of age, the between-group differences were no longer significant for autoimmunity (21% in group A and 20% in group B, P=0.59) or overt disease (16% and 16%, P=0.78 by the log-rank test). At 10 years, the risk of celiac disease autoimmunity was far higher among children with high-risk HLA than among those with standard-risk HLA (38% vs. 19%, P=0.001), as was the risk of overt celiac disease (26% vs. 16%, P=0.05). Other variables, including breast-feeding, were not associated with the development of celiac disease. CONCLUSIONS: Neither the delayed introduction of gluten nor breast-feeding modified the risk of celiac disease among at-risk infants, although the later introduction of gluten was associated with a delayed onset of disease. A high-risk HLA genotype was an important predictor of disease. (Funded by the Fondazione Celiachia of the Italian Society for Celiac Disease; CELIPREV ClinicalTrials.gov number, NCT00639444.).

Long-term home parenteral nutrition in children with chronic intestinal failure: A 15-year experience at a single Italian centre.

BACKGROUND AND AIMS: Chronic intestinal failure is a condition causing severe impairment of intestinal functions; long-term total parenteral nutrition is required to provide adequate nutritional support. METHODS: This is a 15-year follow-up study of paediatric patients with intestinal failure receiving long-term home parenteral nutrition. RESULTS: Thirty-six patients were included in the study, all aged <16 years. Total parenteral nutrition and home parenteral nutrition were administered respectively to 100.97 and 85.20 patients-year. Today, 12 out of 36 patients are still on parenteral nutrition. A total of 99 central venous catheters were inserted, for mean 2.75 catheters/patient. The overall incidence rates of catheter-related complications was 1.79 per 1000 days-catheter for sepsis and 3.37 per 1000 days-catheter for mechanical complications. Two multivariate Cox-models have been used to examine the role of some predictors for septic or mechanical complications. The only risk factor for septic complications was the indication for parenteral nutrition, and the only predictor of mechanical complications was the insertion period. CONCLUSIONS: Our experience in the treatment of paediatric patients with gastrointestinal diseases confirms that long-term parenteral nutrition has become a safe and appropriate method in the treatment of severe chronic intestinal failure.

Beta-cell autoimmunity in pediatric celiac disease: the case for routine screening?

OBJECTIVE: To evaluate the prevalence of beta-cell autoimmunity and the usefulness of a type 1 diabetes screening in patients with celiac disease. RESEARCH DESIGN AND METHODS: We measured GAD antibodies (GADAs), insulinoma-associated protein 2 antigens (IA-2As), and insulin autoantibodies (IAAs) in 188 young Italian patients with celiac disease (66 male [35.1%]). Mean age at celiac disease diagnosis was 5.4 years (0.5-17.1), and mean celiac disease duration was 4.2 years (0-28.8). Celiac disease was diagnosed by jejunal biopsy after positivity for endomysial and tissue transglutaminase antibody was confirmed. RESULTS: GADAs were positive in seven patients (3.7%), and IA-2As were positive in two patients. IAAs were negative in all cases. Metabolic evaluation was normal, and no patients developed diabetes during follow-up. There was no significant association among beta-cell autoimmunity and sex, age, pubertal stage, family history, or coexistence of other autoimmune disorders; compliance to a gluten-free diet was confirmed. CONCLUSIONS: Our results showed a low prevalence of beta-cell autoimmunity and do not support a precocious screening for beta-cell autoimmunity in young celiac disease patients.

Drug-resistant bullous pemphigoid and inflammatory bowel disease in a pediatric case successfully treated by plasma exchange and extracorporeal photochemotherapy.

Bullous pemphigoid (BP) is an autoimmune skin disease that occurs mainly in elderly patients; onset of BP is rare in childhood. Inflammatory bowel diseases (IBD), by contrast, have a pediatric onset in 25% of presenting cases, requiring expert multidisciplinary management. Here we report a pediatric case of IBD (involving stomach, duodenum, ileum, and colon-rectum) associated with a disseminated form of drug-resistant BP successfully treated by plasma exchange (PEX), extracorporeal photochemotherapy (ECP), and corticosteroid therapy. The addition of PEX and ECP to standard treatment induced no severe side effects, prompted a rapidly achieved complete and long-term remission, and allowed dose tapering of the immunosuppressive drugs over an 18-month follow-up.

Chronic eosinophilic ascites in a very young child.

UNLABELLED: A case of chronic eosinophilic ascites with onset in early infancy is described. An intensive diagnostic work-up ruled out other known causes of ascites in childhood. The final diagnosis was made at 2 years of age when a large number of eosinophils was detected in the ascitic fluid. The outcome was complicated by an ex vacuo intraperitoneal haemorrhage. Steroids were able to control the disease only after complete aspiration (1600 ml) of the ascitic fluid. On discontinuation of treatment, peritoneal inflammation recurred indicating steroid-dependency. CONCLUSION: eosinophilic ascites, a very rare disorder in children, should be considered in the differential diagnosis of even very young children presenting with ascites.

A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies.

The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is characterized by hypogammaglobulinemia and recurrent bacterial infections. Here we report a novel case of ICF syndrome with hypogammaglobulinemia and an inverted CD4/CD8 ratio. Cytogenetically abnormal cells,that were identified in both CD4+ and CD4- peripheral blood lymphocytes, retained their ability to proliferate in vitro following polyclonal stimulation. A primitive defect of B-cell differentiation was detected.