Coeliac disease and Cornelia de Lange syndrome: lack of association.

OBJECTIVES: Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by growth and mental retardation, abnormalities of the upper limbs, gastroesophageal dysfunction, cardiac, ophthalmologic and genitourinary anomalies, hirsutism and characteristic facial features. Growth retardation, behavioural disturbances and gastro-intestinal manifestations can mimic coeliac disease (CD). Genetic conditions like Down, Williams and Turner syndromes can be associated to CD. AIM: To establish if gastro-intestinal signs and symptoms in CdLS patients are due to CD. METHODS: Multiple duodenal biopsies were performed in 24 CdLS patients (mean age 12 years) during the endoscopic follow-up for gastro-esophageal reflux disease (GERD). Histological assessment was performed. Anthropometric parameters were recorded and plotted on the growth charts specific for CdLS patients. Antiendomysium and antitransglutaminase antibodies and HLA-DQ2/DQ8 were tested in all patients. RESULTS: All CdLS patients were growth retarded, although weight and height were within the normal limits using the specific growth charts for CdLS. No histological abnormalities were noted in the intestinal biopsy specimens. Serum levels of antiendomysium and antitransglutaminase antibodies were always normal. The HLA-DQ2/DQ8 was absent in all patients. CONCLUSIONS: While a high prevalence of gastro-intestinal disorders has been described in CdLS children, no association with CdLS has been found.

Chronic peritoneal dialysis in children: catheter related complications. A single centre experience.

Despite advancements in catheter design and dialysis technique, catheter related complications still remain a common clinical problem in paediatric patients on chronic peritoneal dialysis (PD); in particular, infections are a common cause of patient's morbidity and technique failure. In the present paper, data on 89 catheters implanted between January 1986 and December 2002 are reviewed to analyse the major causes of complications and/or PD failure and to ascertain their optimal management. A total of 89 catheters were implanted in 78 patients at the start of chronic PD: 26 in children under 2 years of age, 14 in children aged 2-5 years and 49 in patients over 5 years. Mean age of patients was 76.1 +/- 73.0 months and median treatment time 14.5 +/- 13.1 months. All catheters were surgically implanted and partial omentectomy was performed in 70% of cases. Straight Tenckhoff catheters were used in 70 cases (78%), curled ones in 19 (22%). Sixty-three catheters (71%) had two cuffs, 26 (29%) a single cuff. The entry-site was the midline in 34 patients (38%) and the paramedian line in 55 patients (62%). Catheter survival rate was 80% at 12 months, 62% at 24 months and 58% at 36 and 48 months, respectively. The incidence of catheter-related complications was one episode every 6.4 PD-months, and they were mainly represented by peritonitis (61%), exit-site infections and tunnel infection (ESI + TI: 23%), catheter obstruction (5%), dislocation (3.5%), leakage (2.5%). After the introduction of curled single-cuff catheters, a considerable reduction in the peritonitis incidence was observed during the last 7 years. A more prolonged catheter survival was observed in older children (>5 vs. <2 years: P < 0.05). Leakage was less common in catheters with paramedian entry-site compared with catheters implanted on the midline. In 7 out of 11 (64%) patients with catheter obstruction, omentectomy had not been performed. Single-cuff catheters had a lower infection-rate than double-cuff catheter (P < 0.01). Single cuff-curled Tenckhoff catheter can be considered the first choice catheter. Single cuff-catheters are not associated with an increase of infections. The surgical technique requires a strict adherence to a standardized procedure and a dedicated team, in order to obtain a reduction of the complications, a prolonged catheter duration and a better quality of life.

Helicobacter pylori stool antigen test: a method to confirm eradication in children.

We evaluated an antigen-based stool assay as an indicator of Helicobacter pylori (Hp) status during treatment aimed at eradicating Hp in 22 Hp-positive patients and 63 negative control patients. The sensitivity and specificity of the assay was 100% and 70%, respectively, when the manufacturer's cutoff was used. When we used the cutoff calculated from a receiver operating characteristic curve, the specificity of this test increased. Under these conditions, the test could be used in monitoring treatment and verifying eradication of Hp infection. Further studies must be carried out to standardize the cutoff in children.