RESUMO
The International Diabetes Federation (IDF-2015) estimates the existence of 30,900 children under 15 years old with type 1 diabetes mellitus (DM1) in Brazil, and an increase of 3.0% per year is expected. This review focused on meta-analysis and pediatric diabetes update articles in order to draw attention to the need of planning coping strategies to support this serious public health problem in coming years. DM1 is considered an immuno-mediated disease with a complex transmission influenced by genetic and environmental factors responsible for a gradual destruction of the insulin producing pancreatic beta cells. Seroconversion to DM1-associated autoantibodies and abnormalities in metabolic tests that assess insulin secretion and glucose tolerance can be used as predictive criteria of beta cells functional reserve and the onset of the clinical disease. Symptomatic DM1 treatment is complex and the maintenance of good metabolic control is still the only effective strategy for preserving beta cell function. Disease duration and hyperglycemia are both risk factors for the onset of chronic vascular complications that negatively affect the quality of life and survival of these patients. In this regard, health teams must be trained to provide the best possible information on pediatric diabetes, through continuing education programs focused on enabling these young people and their families to diabetes self-management.
Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Brasil/epidemiologia , Pré-Escolar , Diabetes Mellitus Tipo 1/fisiopatologia , Humanos , Fatores de RiscoRESUMO
Summary The International Diabetes Federation (IDF-2015) estimates the existence of 30,900 children under 15 years old with type 1 diabetes mellitus (DM1) in Brazil, and an increase of 3.0% per year is expected. This review focused on meta-analysis and pediatric diabetes update articles in order to draw attention to the need of planning coping strategies to support this serious public health problem in coming years. DM1 is considered an immuno-mediated disease with a complex transmission influenced by genetic and environmental factors responsible for a gradual destruction of the insulin producing pancreatic beta cells. Seroconversion to DM1-associated autoantibodies and abnormalities in metabolic tests that assess insulin secretion and glucose tolerance can be used as predictive criteria of beta cells functional reserve and the onset of the clinical disease. Symptomatic DM1 treatment is complex and the maintenance of good metabolic control is still the only effective strategy for preserving beta cell function. Disease duration and hyperglycemia are both risk factors for the onset of chronic vascular complications that negatively affect the quality of life and survival of these patients. In this regard, health teams must be trained to provide the best possible information on pediatric diabetes, through continuing education programs focused on enabling these young people and their families to diabetes self-management.
Resumo A Federação Internacional de Diabetes (IDF-2015) estima a existência no Brasil de 30.900 menores de 15 anos portadores de diabetes mellitus tipo 1 (DM1), com previsão de aumento de 3,0% ao ano. Esta revisão buscou artigos de metanálise e atualização em diabetes infantil com o objetivo de alertar para a necessidade do planejamento de estratégias de enfrentamento deste que tende a ser um sério problema de saúde pública para os próximos anos. O DM1 é considerado uma doença imunomediada de transmissão complexa, influenciada por fatores genéticos e ambientais determinantes da destruição gradual das células beta pancreáticas produtoras de insulina. A positividade sorológica dos autoanticorpos associados ao DM1 e a alteração de testes metabólicos que avaliam a secreção de insulina e o estado glicêmico podem ser utilizados como critérios de previsão da reserva funcional de células beta e do início clínico da doença. O tratamento do DM1 sintomático é complexo, e a manutenção do bom controle metabólico é ainda a única estratégia efetiva de preservação das células beta ainda funcionantes. Tempo de duração da doença e hiperglicemia são fatores de risco para a instalação das complicações vasculares crônicas, que afetam negativamente a qualidade de vida e a sobrevida desses indivíduos. Torna-se necessária a formação de equipes de saúde preparadas para fornecer a melhor informação possível em diabetes infantil, através de programas de educação continuada, com potencial de capacitar esses jovens e suas famílias para o autocuidado.
Assuntos
Humanos , Pré-Escolar , Diabetes Mellitus Tipo 1/fisiopatologia , Brasil/epidemiologia , Fatores de Risco , Diabetes Mellitus Tipo 1/epidemiologiaRESUMO
The aim of this study is to evaluate the influence of economic status on clinical care provided to Brazilian youths with type 1 diabetes in daily practice, according to the American Diabetes Association's guidelines. This was a cross-sectional, multicenter study conducted between 2008 and 2010 in 28 public clinics in Brazil. Data were obtained from 1,692 patients (55.3 % female, 56.4 % Caucasian), with a mean age of 13 years (range, 1-18), a mean age at diagnosis of 7.1 ± 4 years and diabetes duration of 5 ± 3.7 years. Overall, 75 % of the patients were of a low or very low economic status. HbA1c goals were reached by 23.2 %, LDL cholesterol by 57.9 %, systolic blood pressure by 83.9 % and diastolic blood pressure by 73.9 % of the patients. In total, 20.2 % of the patients were overweight and 9.2 % were obese. Patients from very low economic status were less likely to attend tertiary care level when compared with those from low, medium and high economic status, 64.2 % versus 75.5 % versus 78.3 % and 74.0 %; p < 0.001, respectively. The rate of annual screening for retinopathy, nephropathy and for foot alterations was 66.2, 69.7 and 62.7 %, respectively. Insulin dose, age, very low economic status, daily frequency of self-blood glucose monitoring and female gender were independently associated with poor glycemic control. Screening for diabetic complications and attaining glucose, lipid and blood pressure goals present a challenge for young Brazilian type 1 diabetes patients. The low economic status of the majority of our patients may represent a barrier to reaching these goals.
Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/terapia , Classe Social , Adolescente , Brasil/epidemiologia , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 1/economia , Feminino , Hemoglobinas Glicadas/análise , Humanos , Lactente , Masculino , Fatores de RiscoRESUMO
Wolcott-Rallison syndrome (WRS, OMIM 226980) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. We described two novel mutations in the EIF2AK3 gene in two consanguineous families with WRS from Brazil and Morocco. We have observed in case 1 a homozygous C > T replacement at base pair c.1192 at exon 7, generating a stop codon at position 398 (Gln398Stop). Both of his parents were found to be heterozygous for the mutation. We detected in both parents of case 2, a deceased Moroccan girl, a duplication of base pair c.851A at exon 5 (c.851dupA) leading to a frameshift and a stop codon at position 285 (p.Pro285AlafsX3). Both cases 1 and 2 had neonatal diabetes mellitus, multiple epiphyseal dysplasia, and growth delay, and presented episodes of acute hepatic dysfunction. Case 1 presented central hypothyroidism, developmental delay, and mild mental retardation. Case 2 presented a fatal episode of acute renal failure. The clinical phenotype associated with the syndrome can be variable, but a combination of infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, and hepatic and/or renal dysfunction is the mainstay of diagnosis.