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 1.39/105 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.
(Inflamm Bowel Dis 2008)
SUMMARYThe genetic predisposition to coeliac disease is associated with the HLA DQw2 allele. Coeliac patients lacking the DQw2 allele are very rare and always exhibit the DR4-DQw3 haplotype. We performed oligotyping of polymerase chain reaction (PCR)-amplified DQAl and DQBl genes in six DQw2-negative and 30 DQw2-positive coeliac patients. The DQB analysis showed that all six DQw2-negative patients possessed the DQB 1*0302 allele. The other DQB alleles found in five of these patients were DQB 1*0501, DQB 1*0604 and DQB 1*0302. The DQ/? chains encoded from all these alleles have the replacement of aspartic acid residue at position 57 (Asp57), as well as the DQB 1 *0201 allele which was found in all 30 DQw2-positive coeliac patients. The DQw2-negative proband who lacked the homozygous Asp57 replacement exhibited the DQA1*O5OI allele in the DQAl gene. The DQAl *050l allele was also found in 27 ofthe 30 DQw2-positive coeliac patients. Among this group of coeliacs, the four cases lacking the DQA1*O5O1 allele exhibited the homozygous Asp57 replacement in the DQj? chain. Our results indicate that Asp57-negative DQj? alleles are involved in both DQw2-positive and -negative coeliac patients. Moreover, when the Asp57-negative DQ)? chain is encoded from only one of the two DQBl genes the DQA 1*0501 allele is always present.
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