Caracterização dos pacientes MODY no ambulatório de diabetes mellitus tipo 1 da UNESP de Botucatu
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Data
2022-12-16
Autores
Peghinelli, Vinícius Vigliazzi
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Editor
Universidade Estadual Paulista (Unesp)
Resumo
Maturity-onset diabetes of the young (MODY) é uma forma monogênica de diabetes que pode acometer até 4% da população diabética, segundo estudos. Mutações em 14 genes envolvidos no desenvolvimento e maturação das células beta pancreáticas, e em enzimas envolvidas na detecção de glicose pelas células beta já foram relatadas como causas de MODY. O fenótipo de MODY inclui diabetes de início precoce, comumente antes dos 35 anos, hiperglicemia leve e estável em jejum, parentes de primeiro grau afetados, entre outras características incompatíveis tanto com diabetes mellitus tipo 1 (DM1), quanto com diabetes mellitus tipo 2 (DM2). Na maioria dos casos, o controle da hiperglicemia dispensa o tratamento insulínico e/ou exige apenas baixas doses de sulfoniureias. Pela dificuldade de diagnóstico, que envolve testes genéticos moleculares, a maioria dos pacientes com MODY acaba sendo diagnosticada incorretamente com outras formas de diabetes. O diagnóstico incorreto resulta em prescrição de insulina a pacientes com MODY, expondo-os a episódios de hipoglicemia, além de aumentar os gastos em saúde pública com o tratamento. Portanto, o presente estudo teve por objetivo identificar os pacientes do ambulatório de DM1 do Hospital das Clínicas de Botucatu (HC-UNESP) suspeitos ao diagnóstico de MODY, através da aplicação de uma calculadora de probabilidade de MODY validada no Reino Unido. Posteriormente, realizamos o sequenciamento do gene MODY que mais correspondeu ao fenótipo dos pacientes selecionados. O próximo passo será fazer sequenciamento de todos os genes associados ao MODY nestes pacientes. Assim, esta pesquisa permitirá identificar os pacientes com MODY do ambulatório de DM1 do HC-UNESP, favorecendo o manejo correto da hiperglicemia, nestes pacientes.
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that can affect up to 4% of the diabetic population, according to studies. Mutations in 14 genes involved in the development and maturation of pancreatic beta cells, and in enzymes involved in the detection of glucose by beta cells have already been reported as causes of MODY. The MODY phenotype includes early-onset diabetes, commonly before the age of 35, mild and stable fasting hyperglycemia, first-degree relatives affected, among other characteristics incompatible with both type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM). In most cases, the control of hyperglycemia dispenses insulin treatment and/or requires only low doses of sulphonyurea. Due to the difficulty of diagnosis, which involves molecular genetic tests, most patients with MODY end up being misdiagnosed with other forms of diabetes. Incorrect diagnosis results in insulin prescription to patients with MODY, exposing them to episodes of hypoglycemia, in addition to increasing public health spending on treatment. Therefore, the present study aimed to identify patients at the DM1 outpatient clinic at the Hospital das Clínicas de Botucatu (HC-UNESP) suspected of having a diagnosis of MODY, through the application of a MODY probability calculator validated in the United Kingdom. Subsequently, we performed the sequencing of the MODY gene that most corresponded to the phenotype of the selected patients. The next step will be sequencing all genes associated with MODY in these patients. Thus, this research will identify patients with MODY from the DM1 outpatient clinic at HC-UNESP, favoring the correct management of hyperglycemia in these patients.
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that can affect up to 4% of the diabetic population, according to studies. Mutations in 14 genes involved in the development and maturation of pancreatic beta cells, and in enzymes involved in the detection of glucose by beta cells have already been reported as causes of MODY. The MODY phenotype includes early-onset diabetes, commonly before the age of 35, mild and stable fasting hyperglycemia, first-degree relatives affected, among other characteristics incompatible with both type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM). In most cases, the control of hyperglycemia dispenses insulin treatment and/or requires only low doses of sulphonyurea. Due to the difficulty of diagnosis, which involves molecular genetic tests, most patients with MODY end up being misdiagnosed with other forms of diabetes. Incorrect diagnosis results in insulin prescription to patients with MODY, exposing them to episodes of hypoglycemia, in addition to increasing public health spending on treatment. Therefore, the present study aimed to identify patients at the DM1 outpatient clinic at the Hospital das Clínicas de Botucatu (HC-UNESP) suspected of having a diagnosis of MODY, through the application of a MODY probability calculator validated in the United Kingdom. Subsequently, we performed the sequencing of the MODY gene that most corresponded to the phenotype of the selected patients. The next step will be sequencing all genes associated with MODY in these patients. Thus, this research will identify patients with MODY from the DM1 outpatient clinic at HC-UNESP, favoring the correct management of hyperglycemia in these patients.
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Palavras-chave
MODY, Diabetes monogênico, Modelo de previsão clínica, Sequenciamento genético, Monogenic diabetes, Clinical forecasting model, Genetic sequencing, Diabetes mellitus, Fisiopatologia, Hiperglicemia - Aspectos genéticos