RESUMO
Ten patients (5 males) affected by epilepsy with cerebral calcifications of unknown etiology mainly located in the posterior regions were subjected to a battery of tests including an intestinal biopsy. Our aim was to establish whether or not the patients also suffered from celiac disease. Celiac diseases was found in 6 patients. This result and the individual cases reported in the literature suggest that this triad of diseases (celiac disease, posterior cerebral calcifications and epilepsy) are casually related. The same HLA phenotype was found in all 10 patients, i.e., including the cases without celiac disease, suggesting an underlying disorder of the immune system. Our results emphasize that particular attention should be paid to a search for celiac disease in all patients with epilepsy and posterior cerebral calcifications.
Assuntos
Encefalopatias/complicações , Calcinose/complicações , Doença Celíaca/complicações , Epilepsia/complicações , Adolescente , Adulto , Encefalopatias/diagnóstico por imagem , Encefalopatias/dietoterapia , Calcinose/diagnóstico por imagem , Calcinose/dietoterapia , Doença Celíaca/dietoterapia , Dieta , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/dietoterapia , Feminino , Glutens , Antígenos HLA/fisiologia , Humanos , Absorção Intestinal/fisiologia , Masculino , Fenótipo , Tomografia Computadorizada por Raios XRESUMO
Considering 50 children affected by sub-acute gastrointestinal diseases by severe growth disorders, we have compared the "one-hour blood xylose test" with the "xylose and lactose H2 breath test, looking for a relationship with the duodeno-jejunal mucosal damage. Finally the integration between the "one hour blood xylose test" and the "xylose H2 breath test" may be useful in order to compare more exactly the results of both xylose tests with the mucosal damage. Lactose H2 breath test seems less reliable for our purposes because of the possible presence of children with lactase deficiences, hardly comparable with the mucosal damage.
Assuntos
Testes Respiratórios , Síndromes de Malabsorção/diagnóstico , Xilose/sangue , Testes Respiratórios/métodos , Criança , Pré-Escolar , Humanos , Hidrogênio/sangue , Lactente , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patologia , Lactose , Síndromes de Malabsorção/metabolismo , Síndromes de Malabsorção/patologiaRESUMO
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.
Assuntos
Colite Ulcerativa/epidemiologia , Doença de Crohn/epidemiologia , Adolescente , Idade de Início , Criança , Feminino , Humanos , Itália/epidemiologia , Masculino , Prognóstico , Sistema de RegistrosRESUMO
The 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 DQA1 and DQB1 genes in six DQw2-negative and 30 DQw2-positive coeliac patients. The DQB analysis showed that all six DQw2-negative patients possessed the DQB1*0302 allele. The other DQB alleles found in five of these patients were DQB1*0501, DQB1*0604 and DQB1*0302. The DQ beta chains encoded from all these alleles have the replacement of aspartic acid residue at position 57 (Asp57), as well as the DQB1*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*0501 allele in the DQA1 gene. The DQA1*0501 allele was also found in 27 of the 30 DQw2-positive coeliac patients. Among this group of coeliacs, the four cases lacking the DQA1*0501 allele exhibited the homozygous Asp57 replacement in the DQ beta chain. Our results indicate that Asp57-negative DQ beta alleles are involved in both DQw2-positive and -negative coeliac patients. Moreover, when the Asp57-negative DQ beta chain is encoded from only one of the two DQB1 genes the DQA1*0501 allele is always present.
Assuntos
Alelos , Ácido Aspártico/análise , Doença Celíaca/genética , Antígenos HLA-DQ/genética , Doença Celíaca/imunologia , Cadeias alfa de HLA-DQ , Cadeias beta de HLA-DQ , Humanos , Polimorfismo GenéticoRESUMO
There have been anecdotal reports of an association between coeliac disease and epilepsy with cerebral calcifications that resemble those of the Sturge-Weber syndrome. A series of patients who had epilepsy with calcifications, in whom coeliac disease (CD) was incidentally observed, prompted us to study this association. 43 patients (15 male, age range 4.6-30.7 years) were selected from two series. 31 patients with cerebral calcifications of unexplained origin and epilepsy (series A) underwent intestinal biopsy. 12 patients with CD and epilepsy (series B) underwent computed tomography. Antibodies to gluten, folic acid serum concentrations, were measured, and HLA typing was done in most patients. 24 of the series A patients were identified as having CD on the basis of a flat intestinal mucosa (15/22 with a high concentration of serum antigluten), and 5 series B patients showed cerebral calcifications, giving a total of 29 cases with the combination of CD, epilepsy, and cerebral calcifications (CEC). In 27 of these CEC patients, calcifications were located in the parieto-occipital regions. Only 2 of the series A patients had gastrointestinal symptoms at the time of intestinal biopsy; most patients had recurrent diarrhoea, anaemia, and other symptoms suggestive of CD in the first 3 years of life. The epilepsy in CEC patients was poorly responsive to antiepileptic drugs. Gluten-free diet beneficially affected the course of epilepsy only when started soon after epilepsy onset. Cases of "atypical Sturge-Weber syndrome" (characterised by serpiginous cerebral calcifications and epilepsy without facial port-wine naevus) should be reviewed, and CD should be ruled out in all cases of epilepsy and cerebral calcifications of unexplained origin.
Assuntos
Encefalopatias/epidemiologia , Calcinose/epidemiologia , Doença Celíaca/epidemiologia , Epilepsia/epidemiologia , Adolescente , Adulto , Anticorpos/sangue , Biópsia , Encefalopatias/complicações , Encefalopatias/diagnóstico , Calcinose/complicações , Calcinose/diagnóstico , Causalidade , Doença Celíaca/complicações , Doença Celíaca/patologia , Criança , Eletroencefalografia , Epilepsia/complicações , Epilepsia/diagnóstico , Feminino , Ácido Fólico/sangue , Glutens/imunologia , Teste de Histocompatibilidade , Hospitais Universitários , Humanos , Itália/epidemiologia , Masculino , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
The contribution of HLA-DP genes to celiac disease susceptibility has been investigated in 95 Italian patients, 41 with childhood and 54 with adult disease onset. Polymerase chain reaction amplification, sequence-specific oligonucleotide probe hybridization and restriction fragment length polymorphism analyses have been carried out. All celiac patients and 56 out of 128 random healthy controls were DQw2-positive. The frequency of the DPB1*0101 allele was significantly increased (pc = 0.002, relative risk 5.21) in patients with celiac disease (23.2%) compared to the whole panel of controls (5.5%), but not to the 56 controls bearing DQw2 (10.7%). No significant difference in the frequency of DPB1*0101 was found between celiac patients with pediatric (24.4%) or adult (22.2%) onset. The DPB1*0101 allele was associated with both the DR3-DQw2 and DR7-DQw2 haplotypes. Moreover, our study has not confirmed the association with DPB1*0402 and DPB1*0301 previously reported in celiac children from southern Italy. The linkage of the DPB1*0101 allele with the DQ locus and the observation that the DP but not the DQ association appears to be ethnically dependent strongly support a secondary role of DP molecules in celiac disease susceptibility.