Inflammatory bowel disease in children and adolescents in Italy: data from the pediatric national IBD register (1996-2003).

Abstract BACKGROUND: The purpose was to assess in Italy the clinical features at diagnosis of inflammatory bowel disease (IBD) in children. METHODS: In 1996 an IBD register of disease onset was established on a national scale. RESULTS: Up to the end of 2003, 1576 cases of pediatric IBD were recorded: 810 (52%) ulcerative colitis (UC), 635 (40%) Crohn's disease (CD), and 131 (8%) indeterminate colitis (IC). In the period 1996-2003 an increase of IBD incidence from 0.89 to 1.39/10(5) inhabitants aged <18 years was observed. IBD was more frequent among children aged between 6 and 12 years (57%) but 20% of patients had onset of the disease under 6 years of age; 28 patients were <1 year of age. Overall, 11% had 1 or more family members with IBD. The mean interval between onset of symptoms and diagnosis was higher in CD (10.1 months) and IC (9 months) versus UC (5.8 months). Extended colitis was the most frequent form in UC and ileocolic involvement the most frequent in CD. Upper intestinal tract involvement was present in 11% of CD patients. IC locations were similar to those of UC. Bloody diarrhea and abdominal pain were the most frequent symptoms in UC and IC, and abdominal pain and diarrhea in CD. Extraintestinal symptoms were more frequent in CD than in UC. CONCLUSIONS: The IBD incidence in children and adolescents in Italy shows an increasing trend for all 3 pathologies. UC diagnoses exceeded CD

Genetic testing for adult-type hypolactasia in Italian families

Background: Adult-type hypolactasia is characterized by the inability to digest lactose during adulthood, due to lactase (LCT) deficiency. It is usually diagnosed by the measurement of breath hydrogen increase after a lactose load (breath hydrogen test, BHT). A substitution of C to T at position –13910 bp upstream the LCT gene (rs4988235), in a regulatory region, was found to be strongly associated with the lactase persistence phenotype in North-European populations. Methods: We investigated the –13910 C/T polymorphism to determine LCT genotype distribution and to validate genetic testing for adult-type hypolactasia in a Southern European population. A total of 43 children referred for suspected lactose malabsorption were enrolled in the study, their parents and siblings (whole sample=112 individuals) also took the breath test, and all were enrolled for clinical monitoring and genotype determination. In addition, 125 unrelated blood donors from the same geographic area were genotyped for the calculation of allelic frequencies. The frequency of C/C genotypes was 70%. Results: The correlation between the C/C genotype (which should correspond to lactose non-digesters) and positive BHT in unrelated family founders was significant (χ2=16.7, p<0.002). The genetic test compared to the BHT had a sensitivity of 95% and 91% and a specificity of 48% and 55% in adults and children, respectively. Conclusions: Low specificity might be due to intrinsic limitations of the standard BHT or to other possible mutations, although no sequence variation was found upon sequencing a 253 bp fragment of the LCT regulatory region in asymptomatic individuals

Genetic testing for adult-type hypolactasia in Italian families

Adult-type hypolactasia is characterized by the inability to digest lactose during adulthood, due to lactase (LCT) deficiency. It is usually diagnosed by the measurement of breath hydrogen increase after a lactose load (breath hydrogen test). A substitution of C to T at position -13910 bp upstream the LCT gene (rs4988234), in a regulatory region, was found to be tightly associated with the Lactase Persistence phenotype in North-European populations. We have investigated the -13910 C/T polymorphism to determine LCT genotype distribution and to validate genetic testing for adult type hypolactasia in a Southern European population. 43 children referred for suspected lactose malabsorption, their parents and siblings (112 individuals), were submitted to breath test, clinical monitoring and genotype determination. 125 unrelated blood donors from the same geographic area were genotyped for the calculation of allelic frequencies. The frequency of C/C genotypes was 70%. The correlation between the C/C genotype (which should correspond to lactose non digesters) and positive BHT in unrelated family founders was statistically significant (chi2=16.7, p<0.002). The genetic test compared to BHT had a sensitivity of 95% and 91% and a specificity of 48% and 55% in adults and children, respectively. Low specificity might be due to intrinsic limitations of the standard BHT or to other possible mutations, although no sequence variation was found upon sequencing a 253 bp fragment of LCT regulatory region in asymptomatic individuals

Management of cholelithiasis in Italian children:a national multicenter study.

AIM: To evaluate the management of Italian children with cholelithiasis observed at Pediatric and Surgical Departments linked to Italian Society of Pediatric Gastroenterology Hepatology and Nutrition. METHODS: One-hundred-eighty children (90 males, median age at diagnosis 7.3 years; range, 0-18 years) with echographic evidence of cholelithiasis were enrolled in the study; the data were collected by an anonymous questionnaire sent to participating centers. RESULTS: One hundred seventeen patients were treated with ursodeoxycholic acid; in 8 children dissolution of gallstones was observed, but the cholelithiasis recurred in 3 of them. Sixty-five percent of symptomatic children treated became asymptomatic. Sixty-four patients were treated with cholecystectomy and in only 2 cases a postoperative complication was reported. Thirty-four children received no treatment and were followed with clinical and echographic controls; in no case the development of complications was reported. CONCLUSION: The therapeutic strategies were extremely heterogeneous. Ursodeoxycholic acid was ineffective in dissolution of gallstones but it had a positive effect on the symptoms. Laparoscopic cholecystectomy was confirmed to be an efficacy and safe treatment for pediatric gallstone

Chronic idiopathic hypertransaminasemia

The elevation of aminotransferase serum levels is frequently encountered in pediatric practice. We have retrospectively evaluated the clinical patterns of 108 patients with chronic, so called "idiopathic", alterations of aminotransferases, by sending a questionnaire to 11 Italian Pediatric Centers. The average period of follow-up was 22 months. Patients, whose ages ranged through all pediatric ages, were mostly asymptomatic and with a rather insignificant physical examination. The average rise of aminotransferases value was generally limited within 2 times the upper normal level and the highest value, during the period of follow-up, never exceeded 5 times the upper normal level. Other liver function tests did not result generally altered significant. Just 25,9% of the patients normalized aminotransferases serum level during the follow-up period. All maintained good physical status with no clinical signs of liver disease. A muscular cause of hyper-transaminasemia was excluded in all the cases. Possible infective causes (HBV and HCV) autoimmune hepatitis, Wilson disease, alfa1 antitripsine deficiency and hyperammoniemia were excluded. Ultrasound investigation did not seem to be a sensitive investigation, resulting negative in 54/82. Histologic liver examination was more informative. This evaluation, performed in 46/108 patients, showed infarct metabolic alterations (steatosis, nucleus glucogenic degeneration, cytoplasmatic clarification) in 65% of cases and inflammatory findings in only 13% of cases. In conclusion, our results suggest the opportunity to enclose liver histologic study in the diagnostic approach of children with hepatic idiopathic chronic hypertransaminasemia. This approach may address the clinician, in a more aimed way, towards further investigations

Valutazione dei fattori di rischio di atopia nel 1° anno di vita. Ricerca policentrica

The authors studied 406 patients newborn babies during the 1st year of life in order to verify the correlation between atopy risk factors and the appearance of early symptoms, particularly gastroenteric (GE). The results obtained did not demonstrate a significant difference concerning the blood cord IgE level and subsequent appearance of food allergy symptoms, whereas positive familiarity showed a better correlation. No significant difference was observed between breast – or formula – fed infants, or between those weaned before or after the 5th month of life. The comparison of dietary regimen adopted during the 1st quarter in the asymptomatic and atopic children respectively, demonstrated that the presence of the predisposing factors influences the appearance of GE symptoms much more than the diet in itself. An allergologic study, randomly performed by Prick-test in 156 cases and by RAST in 200 cases, showed a prevalent, positive response with RAST technique in symptomatic children

Indications to upper gastrointestinal endoscopy in children with dyspepsia.

Abstract OBJECTIVES: The objective of the study was to ascertain the appropriateness of indications for upper gastrointestinal (UGI) endoscopy in children with dyspepsia. METHODS: We used the RAND/University of California at Los Angeles method to investigate the appropriateness of the opinions of a panel of experts. The panel judged 2304 theoretical patient scenarios defined by a combination of demographic and clinical variables. Descriptive and multivariate logistic regression analyses were performed. RESULTS: The panel rated UGI endoscopy as appropriate in 27.2% of cases, inappropriate in 14.3%, and dubious in 58.5%. Disagreement emerged for 21% of cases. UGI endoscopy was considered increasingly appropriate in cases with a positive family history of peptic ulcer and/or Helicobacter pylori infection (odds ratio [OR] 8.518, P < 0.0001), when dyspepsia interfered with activities of daily living ("sleep" OR 7.540, P < 0.0001; "normal activities" OR 5.725, P < 0.0001), and when patients were older than 10 years ("<or=10 years" OR 0.310, P < 0.0001) the longer the duration ("0-2 months" OR 0.002, P < 0.0001; "3-5 months" OR 0.059, P < 0.0001; "6-11 months" OR 0.516, P = 0.0005) and the greater the severity ("mild" OR 0.002, P < 0.0001; "moderate" OR 0.013, P < 0.0001) of their dyspeptic symptoms. CONCLUSIONS: UGI endoscopy is not appropriate for all children with dyspeptic symptoms, but only for cases with a family history of peptic ulcer and/or Helicobacter pylori infection, older than 10 years of age, with symptoms persisting for more than 6 months and severe enough to affect activities of daily living