Nanci P. Oliveira

Doença celíaca em crianças e adolescentes com síndrome de Down

OBJETIVOS: Alta prevalencia de doenca celiaca em pacientes com sindrome de Down tem sido descrita em varios paises. No entanto, no Brasil ainda nao ha relatos mostrando essa associacao. O presente estudo teve como objetivo avaliar a prevalencia de doenca celiaca em criancas e adolescentes com sindrome de Down no sul do Brasil. METODOS: Setenta e um pacientes (32 do sexo feminino e 39 masculino, 2-18 anos) provenientes de Curitiba, Brasil, foram estudados. Oitenta individuos (42 do sexo masculino e 38 feminino, 2-19 anos) foram utilizados como controles do estudo. Todas as amostras foram investigadas para anticorpo anti-endomisio (EmA) e anti-transglutaminase tecidual (anti-tTG). O EmA foi pesquisado atraves de imunofluorescencia indireta usando cordao umbilical como substrato e o anti-tTG atraves da tecnica de ELISA, utilizando transglutaminase tecidual como antigeno. As dosagens de IgA foram realizadas por turbidimetria. RESULTADOS: Cinco pacientes com sindrome de Down (7%) foram positivos para EmA-IgA, com titulos entre 1/5 e 1/80 e catorze (17,5%) para anti-tTG (21-340 unidades). Todos os pacientes positivos para EmA apresentaram simultaneamente positividade para o anti-tTG. Os achados clinicos e histologicos na mucosa intestinal confirmaram doenca celiaca em quatro pacientes. O outro paciente EmA positivo nao foi submetido a biopsia duodenal. Os pacientes positivos apenas para anti-tTG apresentaram valores limitrofes (< 25 unidades) e eram assintomaticos. Nenhum individuo do grupo controle foi positivo para EmA ou anti-tTG. Nenhuma amostra do estudo foi deficiente para IgA. CONCLUSOES: Os dados do presente estudo mostram alta prevalencia (5,6%) de doenca celiaca confirmada em criancas e adolescentes com sindrome de Down da regiao sul do Brasil.

Mannan-binding lectin deficiency increases the risk of recurrent infections in children with Down's syndrome.

Down syndrome (DS) is the most frequent cause of intellectual disability worldwide. DS individuals present abnormalities in the immune system that include high susceptibility to recurrent infections (RI) as well as to autoimmune diseases. Respiratory tract infections remain one of the major causes of death in DS individuals. Mannan-binding lectin (MBL) functions as an opsonina and initiates the lectin complement pathway. MBL deficiency was shown to increase the susceptibility to different infectious diseases, notably by extracellular pathogens. In the present study, MBL circulating levels were evaluated in 150 children with DS from Brazil, to clarify whether MBL deficiency is associated with the presence of RI in these patients. According to the clinical history 30.7% (46/150) of the DS children experienced RI, and MBL deficiency was seen in 34.8% (16/46) of them compared with 13.5% (14/104) of the DS children without RI (p = 0.005, odds ratio = 3.43, 95% confidence interval = 1.5-7.85). Moreover, MBL deficiency was significantly associated with the occurrence of pneumonia when compared with DS without RI (37.5%, 12/32 vs. 13.5% 14/104, p = 0.005, odds ratio = 3.68, 95% confidence interval = 1.5-6.95). These findings demonstrated that MBL deficiency increases the susceptibility to RI in DS patients and that, in the future, they could potentially benefit from MBL therapy.

High positivity of anti-CCP antibodies in patients with Down syndrome

The aim of the present study was to evaluate the prevalence of anti-cyclic citrullinated peptide (CCP) antibodies in patients with Down’s syndrome (DS) previously tested for IgM rheumatoid factor (RF) and to correlate the results with clinical findings. Eighty-eight patients with DS previously tested for IgM-RF were divided into two groups matched for sex and age. Group A consists of 42 RF positive patients and group B of 44 RF negative patients. The presence of anti-CCP antibody was determined using a second-generation enzyme-linked immunosorbent assay. A total of 52.3% (45/86) of DS patients were positive for anti-CCP antibodies. Twenty-four patients (57.1%) of the RF positive group and 21 (47.7%) of the RF negative group presented anti-CCP circulating antibodies. The concordance between both tests was 54.6%. None of the patients had clinical evidence of rheumatoid arthritis or juvenile idiopathic arthritis. Although a high prevalence of anti-CCP antibodies was observed in DS patients, no association has been found presently with clinical disease. Careful follow-up of these patients will be necessary to clarify the real significance of these findings.

Autoantibodies in patients with Down syndrome: early senescence of the immune system or precocious markers for immunological diseases?

Aims:  Down syndrome (DS) patients present several immunological disturbances, with high rates of infections, malignancies and autoimmune phenomena. The present study aims to evaluate the prevalence of autoantibodies in children and adolescents with DS that are not usually investigated, and to establish possible clinical and laboratory associations.

Associação entre cardiopatias congênitas e infeções graves em crianças com síndrome de Down

INTRODUCTION There is a high prevalence of congenital heart disease (CHD) in Down syndrome (DS) patients. Children with DS and CHD also present greater susceptibility to pulmonary infections than those without CHD. AIM To investigate the prevalence and types of CHD and their association with severe infections in children with DS in southern Brazil seen in a reference outpatient clinic. METHODS Children aged between six and 48 months with a diagnosis of DS were included consecutively in the period May 2001 to May 2012, and the presence of CHD and severe infections (pneumonia and sepsis) was investigated, classified and analyzed. RESULTS A total of 127 patients were included, of whom 89 (70.1%) had some type of CHD, 33 (37.7%) of them requiring surgical correction. Severe infections (pneumonia and sepsis) were seen in 23.6% and 5.5%, respectively. Of the cases of pneumonia, 70% had associated CHD (p=0.001) and of those with sepsis, 85% presented CHD (p=0.001). CONCLUSIONS Our study showed a high prevalence of CHD and its association with severe infections in children with DS seen in southern Brazil.