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1.
Rev Assoc Med Bras (1992) ; 70(4): e20231120, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38716937

RESUMO

OBJECTIVE: We aimed to examine the effect of remission status on thiol-disulfide homeostasis in celiac patients and thus to indirectly determine the effect of oxidative stress and inflammation caused by non-compliance with the diet. METHODS: Between February 2019 and December 2021, 117 patients diagnosed with celiac disease were included in this prospective randomized and controlled study. In addition to routine tests of celiac patients, thiol and disulfide measurements were made from the blood both at the beginning of the study and at the end of the first year. RESULTS: While 52 of the patients (44.4%) were in remission, 65 patients (55.6%) were not. There was an evident increase in native thiol levels of the patients who were initially not in remission but went into at the end of the first year (347.4±46.7 µmol/L vs. 365.3±44.0 µmol/L; p=0.001). Mean plasma disulfide levels of patients with celiac going into remission became reduced in the first year from the level of 14.5±5.1 µmol/L down to 8.9±4.2 µmol/L (p<0.001). In celiac patients who entered remission, disulfide and anti-tissue transglutaminase immunoglobulin A levels decreased in a correlation (r=0.526; p<0.001). CONCLUSION: Not being in remission in celiac disease leads to increased oxidative stress, and thiol-disulfide homeostasis is an indirect indicator of this. Additionally, providing remission in celiac patients reduces oxidative stress.


Assuntos
Doença Celíaca , Dieta Livre de Glúten , Dissulfetos , Estresse Oxidativo , Cooperação do Paciente , Compostos de Sulfidrila , Humanos , Doença Celíaca/dietoterapia , Doença Celíaca/sangue , Estresse Oxidativo/fisiologia , Feminino , Masculino , Dissulfetos/sangue , Estudos Prospectivos , Compostos de Sulfidrila/sangue , Adulto , Indução de Remissão , Adulto Jovem , Adolescente , Pessoa de Meia-Idade , Imunoglobulina A/sangue , Transglutaminases/sangue
2.
J Pediatr ; 224: 158-161.e2, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32593411

RESUMO

Current screening guidelines in North America for celiac disease recommend additional IgG based testing for younger children. Our multicenter retrospective study showed that the anti-tissue transglutaminase IgA antibody test should be the recommended initial test in all children, including those ≤24 months of age.


Assuntos
Doença Celíaca/sangue , Proteínas de Ligação ao GTP/sangue , Transglutaminases/sangue , Biomarcadores/sangue , Estudos de Casos e Controles , Doença Celíaca/diagnóstico , Feminino , Humanos , Deficiência de IgA/sangue , Imunoglobulina A/sangue , Lactente , Masculino , Proteína 2 Glutamina gama-Glutamiltransferase , Estudos Retrospectivos
3.
J Pediatr ; 223: 87-92.e1, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32381465

RESUMO

OBJECTIVE: To study the optimal cut-off value for anti-tissue transglutaminase type 2 IgA antibodies (TG2A) in serum to select for diagnostic small bowel biopsies for celiac disease in children with type 1 diabetes mellitus. STUDY DESIGN: Children with type 1 diabetes mellitus with elevated TG2A titers and duodenal biopsies performed during the course of their diabetes treatment were included. Anti-endomysial antibodies were recorded if present. The optimal TG2A cut-off value, expressed as the ratio between obtained value and upper limit of normal (ULN), was determined using receiver operating characteristic curve analysis and compared with the cut-off value used in the European Society for Pediatric Gastroenterology, Hepatology and Nutrition guidelines in terms of sensitivity, specificity, positive and negative predictive value. RESULTS: We included 63 children. The optimal cut-off value for performing biopsies is demonstrated to be 11 times the ULN. Raising the cut-off value from 3 times the ULN to 11 times the ULN changed sensitivity from 96% to 87% and increased specificity from 36% to 73%, increased the positive predictive value from 88% to 94% and lowered negative predictive value from 67% to 53%. The percentage of normal histology was decreased from 12% to 6%. CONCLUSIONS: Increasing the TG2A cut-off value for performing duodenal biopsies in children with type 1 diabetes mellitus and suspected celiac disease leads to a substantial reduction of unnecessary biopsies. We advocate to adapt the European Society for Pediatric Gastroenterology, Hepatology and Nutrition 2012 guidelines for this group of children, including monitoring patients with TG2A levels of less than 11 times the ULN over time.


Assuntos
Doença Celíaca/diagnóstico , Diabetes Mellitus Tipo 1/complicações , Proteínas de Ligação ao GTP/sangue , Transglutaminases/sangue , Adolescente , Anticorpos , Biópsia/efeitos adversos , Doença Celíaca/sangue , Doença Celíaca/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Intestino Delgado/imunologia , Masculino , Proteína 2 Glutamina gama-Glutamiltransferase , Curva ROC , Estudos Retrospectivos , Sensibilidade e Especificidade , Procedimentos Desnecessários
4.
Arq Gastroenterol ; 55(1): 78-81, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29561983

RESUMO

BACKGROUND: Celiac disease is an enteropathy caused by dietary gluten. The combination of serologic, genetic and histologic data has led to description of other categories of this disease. OBJECTIVE: There are a number of patients with iron deficiency anemia (IDA) that do not respond to iron treatment and may be repeated for many times, Therefore, we aimed to investigate celiac disease in this group. METHODS: In this cross sectional transverse prospective study from August 2011 to February 2013, in a Pediatric care clinic affiliated to Shiraz University of Medical Sciences, 184 children including 92 IDA patients who responded to treatment using iron supplement, 45 non-responding iron deficient patients, and 47 healthy individuals, with the maximum age of 18 years, with written consent from their parents, participated in serologic screening (with Anti-TTG antibody and anti-Endomysial antibody) for celiac disease. Patients with at least one positive serology test underwent multiple mucosal biopsy from bulb and duodenum. RESULTS: Among 184 participants, 19 (10.3%) subjects had positive serologic test for celiac disease, including 13 (28.9%) patients in the group with refractory IDA, 5 (5.4%) patients in the group with treated IDA, and 1 patient in the healthy group. The frequency of positive serologic test in the group with IDA resistant to treatment was prominently higher than the other two groups (P<0.001). Among the patients with positive serologic celiac test who underwent endoscopy and biopsy, no histologic evidence of celiac disease was seen. They were diagnosed as potential celiac disease. CONCLUSION: Frequency of potential celiac disease in patients with refractory IDA was higher than control the subjects. Therefore, we recommend serologic screening for early detection and minimizing the complications of celiac disease and repeated iron therapy for this group.


Assuntos
Anemia Ferropriva/sangue , Doença Celíaca/sangue , Doença Celíaca/diagnóstico , Adolescente , Anemia Ferropriva/complicações , Anemia Ferropriva/terapia , Autoanticorpos/sangue , Biomarcadores/sangue , Biópsia , Doença Celíaca/imunologia , Doença Celíaca/patologia , Criança , Pré-Escolar , Estudos Transversais , Duodeno/patologia , Feminino , Humanos , Mucosa Intestinal/patologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Testes Sorológicos/métodos , Transglutaminases/sangue
5.
Arq. gastroenterol ; Arq. gastroenterol;55(1): 78-81, Apr.-Mar. 2018. tab, graf
Artigo em Inglês | LILACS | ID: biblio-888242

RESUMO

ABSTRACT BACKGROUND: Celiac disease is an enteropathy caused by dietary gluten. The combination of serologic, genetic and histologic data has led to description of other categories of this disease. OBJECTIVE: There are a number of patients with iron deficiency anemia (IDA) that do not respond to iron treatment and may be repeated for many times, Therefore, we aimed to investigate celiac disease in this group. METHODS: In this cross sectional transverse prospective study from August 2011 to February 2013, in a Pediatric care clinic affiliated to Shiraz University of Medical Sciences, 184 children including 92 IDA patients who responded to treatment using iron supplement, 45 non-responding iron deficient patients, and 47 healthy individuals, with the maximum age of 18 years, with written consent from their parents, participated in serologic screening (with Anti-TTG antibody and anti-Endomysial antibody) for celiac disease. Patients with at least one positive serology test underwent multiple mucosal biopsy from bulb and duodenum. RESULTS: Among 184 participants, 19 (10.3%) subjects had positive serologic test for celiac disease, including 13 (28.9%) patients in the group with refractory IDA, 5 (5.4%) patients in the group with treated IDA, and 1 patient in the healthy group. The frequency of positive serologic test in the group with IDA resistant to treatment was prominently higher than the other two groups (P<0.001). Among the patients with positive serologic celiac test who underwent endoscopy and biopsy, no histologic evidence of celiac disease was seen. They were diagnosed as potential celiac disease. CONCLUSION: Frequency of potential celiac disease in patients with refractory IDA was higher than control the subjects. Therefore, we recommend serologic screening for early detection and minimizing the complications of celiac disease and repeated iron therapy for this group.


RESUMO CONTEXTO: A doença celíaca é uma enteropatia causada pelo glúten na dieta. A combinação de dados sorológicos, genéticos e histológicos proporcionou a descrição de outras categorias desta doença. OBJETIVO: Há pacientes com anemia por deficiência de ferro que não respondem ao tratamento com ferro mesmo que repetido por muitas vezes. O objetivo deste trabalho foi investigar a presença de doença celíaca nestes indivíduos. MÉTODOS: Realizado estudo prospectivo com cruzamento secional transversal, de agosto de 2011 a fevereiro de 2013, em uma clínica de cuidados pediátricos afiliados a Shiraz University Medical Sciences, com 184 crianças incluindo 92 pacientes com anemia por deficiência de ferro que responderam ao tratamento com ferro suplementar, 45 não respondedores e 47 indivíduos sadios, com idade máxima de 18 anos, todos com consentimento informado dos pais. Todos participaram da triagem sorológica (com anticorpos anti-TTG e anticorpo antiendomísio) para doença celíaca. Pacientes com pelo menos um teste de sorologia positiva foram submetidos a biópsia da mucosa múltipla do bulbo e duodeno. RESULTADOS: Entre os 184 participantes, 19 (10,3%) tinham teste sorológico positivo para doença celíaca, incluindo 13 (28,9%) pacientes no grupo com a anemia por deficiência de ferro refratária, 5 (5,4%) pacientes no grupo com anemia por deficiência de ferro tratados e respondedores e 1 paciente do grupo saudável. A frequência de teste sorológico positivo no grupo com anemia por deficiência de ferro resistente ao tratamento foi destacadamente maior do que os outros dois grupos (P<0,001). Entre os pacientes com teste sorológico positivo para doença celíaca submetidos a endoscopia e biópsia, não foi vista nenhuma evidência histológica de doença celíaca. Foram diagnosticados como potencial doença celíaca. CONCLUSÃO: Potencial frequência de doença celíaca em pacientes com anemia por deficiência de ferro refratária foi maior do que nos controles. Portanto, recomendamos testes sorológicos de triagem para a detecção precoce, minimizando as complicações da terapia de ferro repetidas para este grupo.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Doença Celíaca/diagnóstico , Doença Celíaca/sangue , Anemia Ferropriva/sangue , Autoanticorpos/sangue , Biópsia , Testes Sorológicos/métodos , Biomarcadores/sangue , Doença Celíaca/imunologia , Doença Celíaca/patologia , Transglutaminases/sangue , Estudos Transversais , Estudos Prospectivos , Anemia Ferropriva/complicações , Anemia Ferropriva/terapia , Duodeno/patologia , Mucosa Intestinal/patologia , Pessoa de Meia-Idade
6.
Arq. gastroenterol ; Arq. gastroenterol;54(3): 197-200, July-Sept. 2017. tab, graf
Artigo em Inglês | LILACS | ID: biblio-888204

RESUMO

ABSTRACT BACKGROUND Celiac disease is a glutten induced enteropathy. Some authors recommended screening celiac in children with constipation. There are studies to evaluate celiac disease in children with constipation. But most of them included children regardless to treatment failure. OBJECTIVE The aim of this study was to evaluate frequency of elevated anti TTG in children with constipation after failure to improve during 6 week of appropriate treatment of constipation. METHODS In this cross sectional study, 550 children with prolonged constipation were included. Place of study was Pediatric Gastroenterology clinic of Abuzar children's hospital. Prolonged constipation was defined as a constipation which failed to resolved after 6 weeks of appropriate treatment. Constipation was defined according to ROME III criteria. After parental agreement, 5 mL of blood was obtained. Serum anti TTG level was measure using ELISA method by Orientec kit. Anti TTG>10 was considered positive if IgA was normal. SPSS version 16.0 (Chicago, IL, USA) was used for data analysis. Chi square, t-test, and Mann Whitney test used for data analysis. RESULTS In this study 550 children (m=277, f=273) were included. Mean age of the cases was 6.8±2.9 year. Anti TTG antibody level was 5.8±2.8 unit/mL. Of these case, 42 (7.6%) had positive anti-TTG antibody. Celiac disease was confirmed in 40 cases after histopathology examination. CONCLUSION Anti-TTG was positive in 7.6% children with chronic constipation who failed to respond after 6 week of treatment. Another multicenter study with longer follow up period is recommended.


RESUMO CONTEXTO A doença celíaca é uma enteropatia glúten-induzida. Alguns autores recomendam a triagem de doença celíaca em crianças com constipação. Há estudos para avaliar a doença celíaca em crianças com constipação, mas a maioria inclue crianças independentemente do insucesso do tratamento. OBJETIVO O objetivo deste estudo foi avaliar a frequência de anti-TTG elevado em crianças com constipação após 6 semanas de tratamento adequado e sem sucesso. MÉTODOS Através de cruzamento seccional, 550 crianças com constipação prolongada foram incluídas. O local de estudo foi o ambulatório de Gastroenterologia Pediátrica do Hospital Infantil de Abuzar. Constipação prolongada foi definida como uma constipação, cuja resolução falhou após 6 semanas de tratamento adequado. Constipação foi definida de acordo com critérios de Roma III. Após o consentimento informado dos pais, obteve-se 5 mL de sangue. O nível de anti TTG no soro foi medido usando-se o método ELISA pelo Orientec kit. O anti-TTG >10 foi considerado positivo se IgA estivesse normal. Os dados foram analisados através de testes do Chi-quadrado, t-teste e teste de Mann Whitney utilizando-se o SPSS versão 16.0 (Chicago, IL, EUA). RESULTADOS Um total de 550 crianças (m=277, f=273) foi incluído neste estudo. A média de idade dos pacientes foi 6,8±2,9 anos. O nível de anticorpo anti-TTG foi de 5,8±2,8 unidades/mL. Do total, 42 (7,6%) indivíduos tinham anticorpos anti-TTG positivo. A doença celíaca foi confirmada em 40 casos após exame de histopatologia. CONCLUSÃO O Anti-TTG foi positivo em 7,6% crianças com constipação crônica que não conseguiram responder após 6 semanas de tratamento. Outro estudo multicêntrico, com acompanhamento mais longo período é recomendado.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Autoanticorpos/sangue , Doença Celíaca/diagnóstico , Transglutaminases/sangue , Constipação Intestinal/diagnóstico , Proteínas de Ligação ao GTP/sangue , Ensaio de Imunoadsorção Enzimática , Doença Celíaca/complicações , Transglutaminases/imunologia , Estudos Transversais , Falha de Tratamento , Constipação Intestinal/etiologia , Constipação Intestinal/terapia , Proteínas de Ligação ao GTP/imunologia
7.
J Am Heart Assoc ; 6(5)2017 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-28522678

RESUMO

BACKGROUND: Cigarette smoking plays a major role in cardiovascular diseases. The acute effects of cigarette smoking produce central nervous system-mediated activation of the sympathetic nervous system. The overactive sympathetic nervous system stimulates the secretion of serotonin (5-HT) and catecholamine into blood at supraphysiological levels. The correlation between these pathological conditions induced by smoking and the increased risk of thrombosis has not been thoroughly investigated. The goal of our study was to explore cigarette smoking-associated changes in platelet biology mediated by elevated 5-HT and catecholamine levels in blood plasma. METHODS AND RESULTS: Using blood samples collected from healthy nonsmokers and smokers (15 minutes after smoking), we determined that cigarette smoking increased the plasma 5-HT/catecholamine concentration by several fold and the percent aggregation of platelets 2-fold. Liquid chromatography-tandem mass spectrometry analysis of proteins eluted from platelet plasma membranes of smokers and nonsmokers demonstrated that GTPase-activating proteins and proteins participating in the actin cytoskeletal network were differentially and significantly elevated in smokers' platelet membranes compared with those of nonsmokers. Interestingly, Matrix-assisted laser desorption/ionization-mass spectrometry analyses of the glycans eluted from platelet plasma membranes of the smokers demonstrated that the level and structures of glycans are different from the nonsmokers' platelet surface glycans. Pharmacological blockade of 5-HT or catecholamine receptors counteracted the 5-HT/catecholamine-mediated aggregation and altered the level and composition of glycan on platelet surfaces. CONCLUSIONS: Based on our findings, we propose that smoking-associated 5-HT/catecholamine signaling accelerates the trafficking dynamics of platelets, and this remodels the surface proteins and glycans and predisposes platelets to hyperactive levels. Smokers' platelets also had correspondingly higher resting concentrations of intracellular calcium and transglutaminase activity. These findings suggest a link among smoking, platelet 5-HT, catecholamine signaling, and their downstream effectors-including phospholipase C and inositol-1,4,5-triphosphate pathways-resulting in an increased tonic level of platelet activation in smokers.


Assuntos
Plaquetas/metabolismo , Membrana Celular/metabolismo , Epinefrina/sangue , Ativação Plaquetária , Serotonina/sangue , Transdução de Sinais , Fumar/sangue , Antagonistas Adrenérgicos beta/farmacologia , Adulto , Plaquetas/efeitos dos fármacos , Cálcio/sangue , Estudos de Casos e Controles , Membrana Celular/efeitos dos fármacos , Cromatografia Líquida de Alta Pressão , Humanos , Masculino , Ativação Plaquetária/efeitos dos fármacos , Agregação Plaquetária , Inibidores da Agregação Plaquetária/farmacologia , Polissacarídeos/sangue , Transporte Proteico , Antagonistas do Receptor 5-HT2 de Serotonina/farmacologia , Transdução de Sinais/efeitos dos fármacos , Fumar/efeitos adversos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Espectrometria de Massas em Tandem , Fatores de Tempo , Transglutaminases/sangue , Regulação para Cima
8.
Arq Gastroenterol ; 54(3): 197-200, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28538942

RESUMO

BACKGROUND: Celiac disease is a glutten induced enteropathy. Some authors recommended screening celiac in children with constipation. There are studies to evaluate celiac disease in children with constipation. But most of them included children regardless to treatment failure. OBJECTIVE: The aim of this study was to evaluate frequency of elevated anti TTG in children with constipation after failure to improve during 6 week of appropriate treatment of constipation. METHODS: In this cross sectional study, 550 children with prolonged constipation were included. Place of study was Pediatric Gastroenterology clinic of Abuzar children's hospital. Prolonged constipation was defined as a constipation which failed to resolved after 6 weeks of appropriate treatment. Constipation was defined according to ROME III criteria. After parental agreement, 5 mL of blood was obtained. Serum anti TTG level was measure using ELISA method by Orientec kit. Anti TTG>10 was considered positive if IgA was normal. SPSS version 16.0 (Chicago, IL, USA) was used for data analysis. Chi square, t-test, and Mann Whitney test used for data analysis. RESULTS: In this study 550 children (m=277, f=273) were included. Mean age of the cases was 6.8±2.9 year. Anti TTG antibody level was 5.8±2.8 unit/mL. Of these case, 42 (7.6%) had positive anti-TTG antibody. Celiac disease was confirmed in 40 cases after histopathology examination. CONCLUSION: Anti-TTG was positive in 7.6% children with chronic constipation who failed to respond after 6 week of treatment. Another multicenter study with longer follow up period is recommended.


Assuntos
Autoanticorpos/sangue , Doença Celíaca/diagnóstico , Constipação Intestinal/diagnóstico , Proteínas de Ligação ao GTP/sangue , Transglutaminases/sangue , Adolescente , Doença Celíaca/complicações , Criança , Pré-Escolar , Constipação Intestinal/etiologia , Constipação Intestinal/terapia , Estudos Transversais , Ensaio de Imunoadsorção Enzimática , Feminino , Proteínas de Ligação ao GTP/imunologia , Humanos , Masculino , Proteína 2 Glutamina gama-Glutamiltransferase , Transglutaminases/imunologia , Falha de Tratamento
9.
Rev Med Chil ; 144(2): 211-21, 2016 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-27092676

RESUMO

The prevalence of Celiac disease in the general population is approximately 1% and remains undiagnosed in a significant proportion of individuals. Its clinical presentation includes the classical malabsorption syndrome, unspecific and extra-intestinal manifestations, and silent celiac disease. The serologic diagnosis has an elevated sensitivity and specificity and, at least in adult population, it must be confirmed by biopsy in every case. Diagnosis in subjects already on gluten free diet includes HLA typing and gluten challenge with posterior serologic and histologic evaluation. The core of the treatment is the gluten free diet, which must be supervised by an expert nutritionist. Monitoring must be performed with serology beginning at 3-6 months, and with histology two years after the diagnosis, unless the clinical response is poor. Poor disease control is associated with complications such as lymphoma and small bowel adenocarcinoma. In the future, it is likely that new pharmacologic therapies will be available for the management of celiac disease.


Assuntos
Autoanticorpos/sangue , Doença Celíaca , Imunoglobulina A/sangue , Transglutaminases/sangue , Biomarcadores/sangue , Biópsia , Doença Celíaca/sangue , Doença Celíaca/diagnóstico , Doença Celíaca/etiologia , Doença Celíaca/terapia , Humanos , Imunoglobulina A/imunologia , Sensibilidade e Especificidade , Transglutaminases/imunologia
10.
Rev. méd. Chile ; 144(2): 211-221, feb. 2016. ilus, mapas
Artigo em Espanhol | LILACS | ID: lil-779489

RESUMO

The prevalence of Celiac disease in the general population is approximately 1% and remains undiagnosed in a significant proportion of individuals. Its clinical presentation includes the classical malabsorption syndrome, unspecific and extra-intestinal manifestations, and silent celiac disease. The serologic diagnosis has an elevated sensitivity and specificity and, at least in adult population, it must be confirmed by biopsy in every case. Diagnosis in subjects already on gluten free diet includes HLA typing and gluten challenge with posterior serologic and histologic evaluation. The core of the treatment is the gluten free diet, which must be supervised by an expert nutritionist. Monitoring must be performed with serology beginning at 3-6 months, and with histology two years after the diagnosis, unless the clinical response is poor. Poor disease control is associated with complications such as lymphoma and small bowel adenocarcinoma. In the future, it is likely that new pharmacologic therapies will be available for the management of celiac disease.


Assuntos
Humanos , Autoanticorpos/sangue , Imunoglobulinas/sangue , Doença Celíaca/diagnóstico , Doença Celíaca/etiologia , Doença Celíaca/sangue , Doença Celíaca/terapia , Transglutaminases/sangue , Biópsia , Imunoglobulinas/imunologia , Biomarcadores/sangue , Transglutaminases/imunologia , Sensibilidade e Especificidade
11.
Arq. gastroenterol ; Arq. gastroenterol;52(4): 272-277, Oct.-Dec. 2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-771917

RESUMO

Background - Celiac disease is an autoimmune systemic disorder in genetically predisposed individuals precipitated by gluten ingestion. Objective - In this study, we aimed to determine asymptomatic spike-and-wave findings on electroencephalography in children with celiac disease. Methods - A total of 175 children with the diagnosis of celiac disease (study group) and 99 age- and sex-matched healthy children as controls (control group) were included in the study. In order to determine the effects of gluten free diet on laboratory and electroencephalography findings, the celiac group is further subdivided into two as newly-diagnosed and formerly-diagnosed patients. Medical histories of all children and laboratory findings were all recorded and neurologic statuses were evaluated. All patients underwent a sleep and awake electroencephalography. Results - Among 175 celiac disease patients included in the study, 43 were newly diagnosed while 132 were formerly-diagnosed patients. In electroencephalography evaluation of patients the epileptiform activity was determined in 4 (9.3%) of newly diagnosed and in 2 (1.5%) of formerly diagnosed patients; on the other hand the epileptiform activity was present in only 1 (1.0%) of control cases. There was a statistically significant difference between groups in regards to the presence of epileptiform activity in electroencephalography. Pearson correlation analysis revealed that epileptiform activity in both sleep and awake electroencephalography were positively correlated with tissue transglutaminase levels (P=0.014 and P=0.019, respectively). Conclusion - We have determined an increased epileptiform activity frequency among newly-diagnosed celiac disease patients compared with formerly-diagnosed celiac disease patients and control cases. Moreover the tissue transglutaminase levels were also correlated with the presence of epileptiform activity in electroencephalography. Among newly diagnosed celiac disease patients, clinicians should be aware of this association and be alert about any neurological symptoms.


Contexto - A doença celíaca é uma doença sistêmica auto-imune em indivíduos geneticamente predispostos, precipitada pela ingestão de glúten. Objetivo - Neste estudo, tivemos como objetivo determinar achados de picos e onda assintomáticos na eletroencefalografia de crianças com doença celíaca. Métodos - Foi incluído um total de 175 crianças com o diagnóstico de doença celíaca (grupo de estudo) com idade e sexo correspondentes a 99 crianças saudáveis como controles (grupo controle) com o fim de determinar os efeitos da dieta livre de glúten nos resultados laboratoriais e na eletroencefalografia. O grupo de doença celíaca é subdividido em dois, com pacientes recém diagnosticados e anteriormente diagnosticados. Foram registrados históricos médicos e resultados laboratoriais de todas as crianças e foram avaliados os estados neurológicos. Todos os pacientes foram submetidos a um eletroencefalografia em sono e acordado. Resultados - Dos 175 pacientes com doença celíaca incluídos no estudo, 43 foram recém diagnosticados, enquanto 132 foram diagnosticados anteriormente. Na avaliação de eletroencefalografia dos pacientes a atividade epileptiforme foi determinada em 4 (9,3%) de recém diagnosticados e em 2 (1,5%) dos pacientes anteriormente diagnosticados; por outro lado, a atividade epileptiforme estava presente em apenas 1 (1,0%) dos casos de controle. Houve uma diferença estatisticamente significativa entre os grupos no que diz respeito à presença de atividade epileptiforme em eletroencefalografia. Análise de correlação de Pearson revelou que atividade epileptiforme na eletroencefalografia tanto no sono como na vigília foram positivamente correlacionados com níveis de transglutaminase tecidual (P=0,014 e P=0,019, respectivamente). Conclusão - Determinamos uma frequência de atividade epileptiforme aumentada entre pacientes recém diagnosticados com doença celíaca em comparação com pacientes anteriormente diagnosticados e casos de controle. Além disso, os níveis de transglutaminase tecidual também foram correlacionados com a presença de atividade epileptiforme na eletroencefalografia. Os clínicos devem estar cientes dessa associação e alertas sobre algum sintoma neurológico entre pacientes recentemente diagnosticados de doença celíaca.


Assuntos
Criança , Feminino , Humanos , Masculino , Doença Celíaca/fisiopatologia , Córtex Cerebral/fisiopatologia , Proteínas de Ligação ao GTP/sangue , Transglutaminases/sangue , Estudos de Casos e Controles , Doença Celíaca/sangue , Doença Celíaca/enzimologia , Dieta Livre de Glúten , Eletroencefalografia
12.
Arq. gastroenterol ; Arq. gastroenterol;52(4): 278-282, Oct.-Dec. 2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-771927

RESUMO

Background - Celiac disease is an immune-mediated enteropathy due to a permanent sensitivity to gluten in genetically susceptible people. Iron-deficiency anemia is the most widely experienced anemia in humans. Iron-deficiency anemia additionally is a common extra intestinal manifestation of celiac disease. Objective - To investigate correlation between tTg levels and histological alterations and then to determine the prevalence of celiac disease in Center and South area patients of Iran with iron deficiency anemia. Methods - A total of 402 patients aged 12-78 years who presented with iron-deficiency anemia were included in this study. Hemoglobin, mean corpuscular volume and serum ferritin were determined. Venous blood samples for anti-tissue transglutaminase antibody immunoglobuline A and G were obtained from these patients. Upper gastrointestinal endoscopy was recommended to patients who had positive serology. Results - Of 402 patients with iron-deficiency anemia, 42 (10.4%) had positive serology for celiac disease. The small intestine biopsy of all patients with positive serology showed pathological changes (Marsh I, II & III). There was not significant difference in the mean hemoglobin level between iron-deficiency anemia patients with celiac disease and without celiac disease, duodenal biopsy results did not show significant relationship between the severity of pathological changes and levels of anti-tTG IgG (P -value: 0/869) but significant relationship was discovered between pathological changes and levels of anti-tTG IgA (P -value: 0/004). Conclusion - Screening of celiac disease by anti-tissue transglutaminase antibody should be completed as a routine investigation in patients with iron-deficiency anemia. Also physicians must consider celiac disease as a possible reason of anemia in all patients with iron deficiency anemia.


Contexto - A doença celíaca é uma enteropatia imunomediada, devido a uma sensibilidade permanente ao glúten em pessoas geneticamente suscetíveis. A anemia por deficiência de ferro é a anemia mais frequente em seres humanos e, além disso, é uma manifestação extra intestinal comum da doença celíaca. Objetivo - Investigar a correlação entre níveis de imunoglobulina de anticorpos anti-transglutaminase tissular A (anti-tTG IgA) e G (IgG anti-tTG) e alterações histológicas e, em seguida, determinar a prevalência de doença celíaca no Centro e Sul do Irã em pacientes com anemia por deficiência de ferro. Métodos - Foram incluídos neste estudo um total de 402 pacientes com idades entre 12-78 anos, que apresentavam anemia por deficiência de ferro. Hemoglobina, volume corpuscular médio e ferritina sérica foram determinados. Amostras de sangue venoso para imunoglobulina de anti-tTG IgA e IgG anti-tTG foram obtidas nestes pacientes. Endoscopia gastrointestinal foi recomendada para pacientes que tiveram sorologia positiva. Resultados - Dos 402 pacientes com anemia por deficiência de ferro, 42 (10,4%) tiveram sorologia positiva para doença celíaca. A biópsia do intestino delgado de todos os pacientes com sorologia positiva mostrou alterações patológicas (Marsh I, II e III). Não houve diferença significativa no nível de hemoglobina média entre os pacientes com deficiência de ferro com ou sem a doença celíaca. O resultado da biopsia duodenal não mostrou relação significativa entre a gravidade das alterações patológicas e níveis de IgG anti-tTG (P -valor: 0/869), mas descobriu-se relação significativa entre as alterações patológicas e níveis de anti-tTG IgA (P -valor: 0/004). Conclusão - A pesquisa de doença celíaca por dosagem de anticorpo anti-transglutaminase tissular deve ser completada como investigação de rotina em pacientes com anemia por deficiência de ferro. Os clínicos devem considerar a doença celíaca como um possível causa de anemia em todos os pacientes com anemia ferropriva.


Assuntos
Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Anemia Ferropriva/diagnóstico , Doença Celíaca/diagnóstico , Anemia Ferropriva/epidemiologia , Anemia Ferropriva/etiologia , Autoanticorpos/sangue , Doença Celíaca/complicações , Doença Celíaca/epidemiologia , Proteínas de Ligação ao GTP/sangue , Proteínas de Ligação ao GTP/imunologia , Imunoglobulina A/sangue , Imunoglobulina A/imunologia , Imunoglobulina G/sangue , Imunoglobulina G/imunologia , Irã (Geográfico)/epidemiologia , Prevalência , Transglutaminases/sangue , Transglutaminases/imunologia
13.
Arq Gastroenterol ; 52(1): 55-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26017084

RESUMO

BACKGROUND: Familial Mediterranean Fever and celiac disease are both related to auto-inflammation and/or auto-immunity and they share some common clinical features such as abdominal pain, diarrhea, bloating and flatulence. Objectives We aimed to determine the association of these two diseases, if present. METHODS: Totally 112 patients diagnosed with Familial Mediterranean Fever and 32 cases as healthy control were included in the study. All participants were examined for the evidence of celiac disease, with serum tissue transglutaminase IgA levels (tTG IgA). RESULTS: Totally 144 cases, 112 with Familial Mediterranean Fever and 32 healthy control cases were included in the study. tTG IgA positivity was determined in three cases with Familial Mediterranean Fever and in one case in control group. In that aspect there was no significant difference regarding the tTG IgA positivity between groups (P=0.81). Duodenum biopsy was performed to the tTG IgA positive cases and revealed Marsh Type 3b in two Familial Mediterranean Fever cases and Marsh Type 3c in the other one while the biopsy results were of the only tTG IgA positive case in control group was Marsh Type 3b. In HLA evaluation of the celiac cases; HLA DQ2 was present in two celiac cases of the Familial Mediterranean Fever group and in the only celiac case of the control group while HLA DQ8 was present in one celiac case of the Familial Mediterranean Fever group. CONCLUSIONS: We did not determine an association of Familial Mediterranean Fever with celiac disease. Larger studies with subgroup analysis are warranted to determine the relationship of these two diseases.


Assuntos
Doença Celíaca/complicações , Febre Familiar do Mediterrâneo/complicações , Autoanticorpos/sangue , Biópsia , Estudos de Casos e Controles , Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Pré-Escolar , Estudos Transversais , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/genética , Feminino , Antígenos HLA-DQ/sangue , Humanos , Imunoglobulina A/sangue , Masculino , Prevalência , Transglutaminases/sangue
14.
Arq. gastroenterol ; Arq. gastroenterol;52(1): 55-58, Jan-Mar/2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-746474

RESUMO

Background Familial Mediterranean Fever and celiac disease are both related to auto-inflammation and/or auto-immunity and they share some common clinical features such as abdominal pain, diarrhea, bloating and flatulence. Objectives We aimed to determine the association of these two diseases, if present. Methods Totally 112 patients diagnosed with Familial Mediterranean Fever and 32 cases as healthy control were included in the study. All participants were examined for the evidence of celiac disease, with serum tissue transglutaminase IgA levels (tTG IgA). Results Totally 144 cases, 112 with Familial Mediterranean Fever and 32 healthy control cases were included in the study. tTG IgA positivity was determined in three cases with Familial Mediterranean Fever and in one case in control group. In that aspect there was no significant difference regarding the tTG IgA positivity between groups (P=0.81). Duodenum biopsy was performed to the tTG IgA positive cases and revealed Marsh Type 3b in two Familial Mediterranean Fever cases and Marsh Type 3c in the other one while the biopsy results were of the only tTG IgA positive case in control group was Marsh Type 3b. In HLA evaluation of the celiac cases; HLA DQ2 was present in two celiac cases of the Familial Mediterranean Fever group and in the only celiac case of the control group while HLA DQ8 was present in one celiac case of the Familial Mediterranean Fever group. Conclusions We did not determine an association of Familial Mediterranean Fever with celiac disease. Larger studies with subgroup analysis are warranted to determine the relationship of these two diseases. .


Contexto A Febre Familiar do Mediterrâneo e a doença celíaca são ambas relacionadas com auto-inflamação e/ou auto-imunidade e partilham algumas características clínicas comuns tais como dor abdominal, diarréia, distensão abdominal e flatulência. Objetivo Determinar a associação destas duas doenças, se presente. Métodos Um total de 112 pacientes diagnosticados com Febre Familiar do Mediterrâneo e 32 casos como controle saudável foram incluídos no estudo. Todos os participantes foram examinados para a evidência da doença celíaca, com níveis de IgA séricos transglutaminase (tTG IgA). Resultados Um total de 144 casos, 112 com Febre Familiar do Mediterrâneo e 32 casos controle saudável foram incluídos no estudo. A positividade tTG IgA foi determinada em três casos com Febre Familiar do Mediterrâneo e em um caso no grupo controle. Neste aspecto não há nenhuma diferença significativa em relação a positividade tTG IgA entre os grupos (P= 0,81). Biópsia de duodeno realizado para os casos positivos de tTG IgA e revelou Marsh tipo 3b em dois casos de Febre Familiar e Marsh tipo 3C no outro, enquanto o resultado da biópsia do único caso positivo tTG IgA no grupo controle foi Marsh tipo 3b. Na avaliação de HLA dos casos de doença celíaca, HLA DQ2 esteve presente em dois casos de doença celíacas do grupo Febre Familiar do Mediterrâneo e no caso celíaco do grupo controle, enquanto HLA-DQ8 estava presente em um caso de doença celíaca do grupo Febre Familiar do Mediterrâneo. Conclusão Não se determinou uma associação de Febre Familiar do Mediterrâneo com doença celíaca. Maiores estudos com análise de subgrupo são necessários para determinar a relação entre estas duas doenças. .


Assuntos
Pré-Escolar , Feminino , Humanos , Masculino , Doença Celíaca/complicações , Febre Familiar do Mediterrâneo/complicações , Autoanticorpos/sangue , Biópsia , Estudos de Casos e Controles , Estudos Transversais , Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/genética , Antígenos HLA-DQ/sangue , Imunoglobulina A/sangue , Prevalência , Transglutaminases/sangue
15.
J Pediatr ; 166(3): 761-3, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25722272

RESUMO

Anti-transglutaminase antibodies are the diagnostic marker of celiac disease, and are considered to be synthesized only by intestinal B-lymphocytes. During an infectious disease, these antibodies are transiently detected in serum. We show that these infection-triggered antibodies may not originate in the intestinal mucosa and are not an indication of celiac disease.


Assuntos
Autoanticorpos/sangue , Doença Celíaca/enzimologia , Proteínas de Ligação ao GTP/imunologia , Mucosa Intestinal/imunologia , Transglutaminases/imunologia , Doença Celíaca/diagnóstico , Doença Celíaca/imunologia , Pré-Escolar , Diagnóstico Diferencial , Ensaio de Imunoadsorção Enzimática , Feminino , Proteínas de Ligação ao GTP/sangue , Humanos , Mucosa Intestinal/patologia , Masculino , Proteína 2 Glutamina gama-Glutamiltransferase , Transglutaminases/sangue
16.
Arq Gastroenterol ; 52(4): 272-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26840467

RESUMO

BACKGROUND: Celiac disease is an autoimmune systemic disorder in genetically predisposed individuals precipitated by gluten ingestion. OBJECTIVE: In this study, we aimed to determine asymptomatic spike-and-wave findings on electroencephalography in children with celiac disease. METHODS: A total of 175 children with the diagnosis of celiac disease (study group) and 99 age- and sex-matched healthy children as controls (control group) were included in the study. In order to determine the effects of gluten free diet on laboratory and electroencephalography findings, the celiac group is further subdivided into two as newly-diagnosed and formerly-diagnosed patients. Medical histories of all children and laboratory findings were all recorded and neurologic statuses were evaluated. All patients underwent a sleep and awake electroencephalography. RESULTS: Among 175 celiac disease patients included in the study, 43 were newly diagnosed while 132 were formerly-diagnosed patients. In electroencephalography evaluation of patients the epileptiform activity was determined in 4 (9.3%) of newly diagnosed and in 2 (1.5%) of formerly diagnosed patients; on the other hand the epileptiform activity was present in only 1 (1.0%) of control cases. There was a statistically significant difference between groups in regards to the presence of epileptiform activity in electroencephalography. Pearson correlation analysis revealed that epileptiform activity in both sleep and awake electroencephalography were positively correlated with tissue transglutaminase levels (P=0.014 and P=0.019, respectively). CONCLUSION: We have determined an increased epileptiform activity frequency among newly-diagnosed celiac disease patients compared with formerly-diagnosed celiac disease patients and control cases. Moreover the tissue transglutaminase levels were also correlated with the presence of epileptiform activity in electroencephalography. Among newly diagnosed celiac disease patients, clinicians should be aware of this association and be alert about any neurological symptoms.


Assuntos
Doença Celíaca/fisiopatologia , Córtex Cerebral/fisiopatologia , Proteínas de Ligação ao GTP/sangue , Transglutaminases/sangue , Estudos de Casos e Controles , Doença Celíaca/sangue , Doença Celíaca/enzimologia , Criança , Dieta Livre de Glúten , Eletroencefalografia , Feminino , Humanos , Masculino , Proteína 2 Glutamina gama-Glutamiltransferase
17.
Arq Gastroenterol ; 52(4): 278-82, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26840468

RESUMO

BACKGROUND: Celiac disease is an immune-mediated enteropathy due to a permanent sensitivity to gluten in genetically susceptible people. Iron-deficiency anemia is the most widely experienced anemia in humans. Iron-deficiency anemia additionally is a common extra intestinal manifestation of celiac disease. OBJECTIVE: To investigate correlation between tTg levels and histological alterations and then to determine the prevalence of celiac disease in Center and South area patients of Iran with iron deficiency anemia. METHODS: A total of 402 patients aged 12-78 years who presented with iron-deficiency anemia were included in this study. Hemoglobin, mean corpuscular volume and serum ferritin were determined. Venous blood samples for anti-tissue transglutaminase antibody immunoglobuline A and G were obtained from these patients. Upper gastrointestinal endoscopy was recommended to patients who had positive serology. RESULTS: Of 402 patients with iron-deficiency anemia, 42 (10.4%) had positive serology for celiac disease. The small intestine biopsy of all patients with positive serology showed pathological changes (Marsh I, II & III). There was not significant difference in the mean hemoglobin level between iron-deficiency anemia patients with celiac disease and without celiac disease, duodenal biopsy results did not show significant relationship between the severity of pathological changes and levels of anti-tTG IgG (P -value: 0/869) but significant relationship was discovered between pathological changes and levels of anti-tTG IgA (P -value: 0/004). CONCLUSION: Screening of celiac disease by anti-tissue transglutaminase antibody should be completed as a routine investigation in patients with iron-deficiency anemia. Also physicians must consider celiac disease as a possible reason of anemia in all patients with iron deficiency anemia.


Assuntos
Anemia Ferropriva/diagnóstico , Doença Celíaca/diagnóstico , Adolescente , Adulto , Idoso , Anemia Ferropriva/epidemiologia , Anemia Ferropriva/etiologia , Autoanticorpos/sangue , Doença Celíaca/complicações , Doença Celíaca/epidemiologia , Criança , Feminino , Proteínas de Ligação ao GTP/sangue , Proteínas de Ligação ao GTP/imunologia , Humanos , Imunoglobulina A/sangue , Imunoglobulina A/imunologia , Imunoglobulina G/sangue , Imunoglobulina G/imunologia , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Proteína 2 Glutamina gama-Glutamiltransferase , Transglutaminases/sangue , Transglutaminases/imunologia , Adulto Jovem
18.
Arq Gastroenterol ; 51(2): 151-4, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25003269

RESUMO

CONTEXT: It is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients. OBJECTIVES: The aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives. METHODS: A survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient's clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended. RESULTS: HLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02). CONCLUSIONS: The prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach.


Assuntos
Autoanticorpos/sangue , Doença Celíaca/epidemiologia , Família , Proteínas de Ligação ao GTP/sangue , Antígenos HLA-DQ/sangue , Transglutaminases/sangue , Adolescente , Adulto , Doença Celíaca/diagnóstico , Doença Celíaca/genética , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Medições Luminescentes , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Portugal/epidemiologia , Prevalência , Proteína 2 Glutamina gama-Glutamiltransferase , Adulto Jovem
19.
Arq Bras Endocrinol Metabol ; 58(3): 270-3, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24863089

RESUMO

OBJECTIVE: To analyze if it is worthwhile to screen Brazilian osteoporotic patients for celiac disease (CD). SUBJECTS AND METHODS: One hundred patients with osteoporosis and 97 controls were evaluated for IgA-EmA (IgA anti-endomysial antibodies) by indirect immunofluorescence method and IgG-anti-tTG (tissue transglutaminase) by ELISA assay. Positive patients were invited to have gastrointestinal endoscopy with jejunal biopsy. RESULTS: Two patients had positive IgG-anti-tTG test and one of them also showed positive IgA-EmA. Only the latter had a positive duodenal biopsy for CD. None of the controls were positive for either auto-antibodies. CONCLUSION: We observed low prevalence of CD in osteoporotic Brazilian patients. This finding does not support routine screening for CD in patients with osteoporosis in our geographic region.


Assuntos
Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Osteoporose/epidemiologia , Idoso , Autoanticorpos , Brasil/epidemiologia , Estudos de Casos e Controles , Comorbidade , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Humanos , Imunoglobulina A/sangue , Masculino , Prevalência , Transglutaminases/sangue , Transglutaminases/imunologia
20.
Arq. gastroenterol ; Arq. gastroenterol;51(2): 151-154, Apr-Jun/2014. tab, graf
Artigo em Inglês | LILACS | ID: lil-713586

RESUMO

Context It is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients. Objectives The aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives. Methods A survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient’s clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended. Results HLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02). Conclusions The prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach. .


Contexto A doença celíaca é uma doença sistémica autoimune muito prevalente nos familiares de primeiro grau de doentes celíacos. Objetivos O objetivo deste estudo é determinar a prevalência de doença celíaca, num grupo de familiares de primeiro grau de crianças com o diagnóstico de doença celíaca e, determinar a frequência de antígeno leucocitário humano (HLA)-DQ2 e DQ8 nos doentes celíacos e seus familiares afetados. Métodos Foi feita a pesquisa dos processos clínicos de 39 crianças com o diagnóstico de doença celíaca seguidas na consulta de Gastroenterologia Pediátrica do Hospital Dr. Nélio Mendonça na Ilha da Madeira, Portugal. Foram convidados 110 familiares de primeiro grau para a realização do rastreio serológico de doença celíaca através da quantificação do anticorpo IgA anti-transglutaminase tecidular humano (IgA-TGG). Aos familiares com resultado positivo no rastreio, foi recomendada a realização de biópsia intestinal e tipificação HLA. Resultados A tipificação HLA foi realizada em 38 crianças. Verificou-se a presença do heterodímero DQ2 em 28/74%, DQ8 em 1/2% e DQ2 incompleto em 9/24% das crianças. O rastreio de DC com IgA-TGG foi positivo em cinco dos 95 familiares analisados, tendo sido diagnosticada doença celíaca em três destes. Verificou-se a presença do heterodímero HLA-DQ2 em três familiares e HLA-DQ2 incompleto (DQB1*02) em dois familiares. Conclusões A prevalência de doença celíaca em familiares de primeiro grau de doentes celíacos foi 3.1%, 4.5 vezes mais elevada do que a da população Portuguesa geral (0,7%), o que reforça a importância de alargar o rastreio a este grupo específico. A tipificação ...


Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Autoanticorpos/sangue , Doença Celíaca/epidemiologia , Família , Proteínas de Ligação ao GTP/sangue , Antígenos HLA-DQ/sangue , Transglutaminases/sangue , Doença Celíaca/diagnóstico , Doença Celíaca/genética , Predisposição Genética para Doença , Medições Luminescentes , Programas de Rastreamento , Prevalência , Portugal/epidemiologia
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