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

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.

Hepatitis C virus in multiple episodes of acute hepatitis in polytransfused thalassaemic children.

We investigated the course of distinct episodes of acute non-A, non-B (NANB) hepatitis in three polytransfused thalassaemic children. In each case, the first episode was associated with the appearance of serum hepatitis C virus (HCV) RNA and anti-HCV seroconversion. The second episode was accompanied by the reappearance of HCV viraemia, which in two patients was due to reinfection with a different HCV strain and in the third could be the result of either reactivation of primary infection or reinfection with a new but closely related strain. Thus HCV infection may not induce protective immunity, which has implications for vaccine development.

Evaluation of antibodies to hepatitis C virus in a long-term prospective study of posttransfusion hepatitis among thalassemic children: comparison between first- and second-generation assay.

During an 8-year prospective study of post-transfusion hepatitis conducted at the Thalassemic Center of Cagliari (Italy), including 135 newly diagnosed thalassemic children on long-term transfusion maintenance, 83 children (61%) developed non-A, non-B hepatitis (NANBH). Resolution of NANBH was observed in 17 (20%) cases, and chronicity in 57 (69%), whereas the remaining 9 (11%) experienced one or two additional bouts of acute NANBH. Of the 83 children with NANBH, 75 (90%) showed anti-hepatitis C virus (HCV) seroconversion when tested by second-generation enzyme-linked immunosorbent assay (ELISA), whereas first-generation ELISA showed anti-HCV in only 59 (71%) cases (p = 0.003). Moreover, the newly developed assay allowed an earlier detection of anti-HCV response in most of the patients who seroconverted by both assays, reducing significantly the mean onset-seroconversion interval (5 +/- 9.4 weeks vs. 14.5 +/- 20.8 weeks, p < 0.05). It was significantly more sensitive for the identification of HCV infection, not only in resolving NANBH, but also in NANBH progressing to chronicity (79 vs. 35%, respectively, p = 0.008; and 93 vs. 79%, p = 0.028). The pattern of antibody response with first-generation assay was characterized by clearance of anti-HCV with time, in most of the patients who recovered, and by persistence of anti-HCV in the majority of those who progressed to chronicity, whereas second-generation ELISA usually showed persistence of anti-HCV over time, regardless to the outcome of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs.

Hepatitis B viral nucleotide sequences in non-A, non-B or hepatitis B virus-related chronic liver disease.

The presence of serological markers of hepatitis B virus (HBV) infection and of hepatocellular HBV DNA were investigated in 19 HBsAg-negative patients with clinically and histologically significant chronic liver disease. Four cases negative for antibodies to HBsAg (anti-HBs), to the core antigen (anti-HBc), and to the e antigen (anti-HBe) were classified as non-A, non-B hepatitis. The remainder, positive for one or more of the three antibodies, were classified as hepatitis B. Histologic diagnosis was chronic active hepatitis in five, chronic persistent hepatitis in 11, micronodular cirrhosis in two, and fatty liver in one patient. The DNA extracted from limited amounts of liver biopsies, without cleavage by restriction endonucleases, was analyzed by the Southern blot technique for the presence of episomal HBV DNA. Autoradiographs showed a single band of less than 4.0 kilobase (kb) corresponding to the monomeric form of HBV DNA in five patients, several bands of larger forms (4.0 to 18.0 kb) in three patients, both the monomeric and the larger forms in eight patients, and no HBV DNA in three patients. While HBV DNA was detected in the hepatocellular DNA of six patients who underwent splenectomy, hybridization was negative with the DNA extracted from their spleens. The episomal viral DNA larger than 4.0 kb may represent concatemeric forms or free oligomers which could not be distinguished from rearranged and/or integrated viral DNA in the limited analyses of the hepatocellular DNA hydrolyzed with HindIII or EcoRI. Our observations suggest the presence of HBV-like agents in the liver of serologically HBsAg-negative patients with chronic liver disease.