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Master's Dissertation
DOI
https://doi.org/10.11606/D.17.2023.tde-15022024-155721
Document
Author
Full name
Karin Barszcz
Institute/School/College
Knowledge Area
Date of Defense
Published
Ribeirão Preto, 2023
Supervisor
Committee
Liberatore Junior, Raphael Del Roio (President)
Arrais, Ricardo Fernando
Custodio, Rodrigo José
Title in Portuguese
Avaliação clínico-laboratorial de pacientes com suspeita de Diabetes Mellitus tipo Maturity-onset Diabetes of the Young (MODY)
Keywords in Portuguese
Diabetes mellitus
Hiperglicemia
MODY
Abstract in Portuguese
Introdução: Diabetes mellitus (DM) é uma doença clínica frequente e ainda constitui um desafio diagnóstico para diferenciação entre os tipos 1 e 2 e o tipo Maturity Onset Diabetes of the Young (MODY). Objetivos: Descrever o padrão clínico-laboratorial dos pacientes com suspeita de MODY acompanhados no Ambulatório de Diabetes Infantil (AENDI) do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto - USP (HC-FMRP-USP). Metodologia: Estudo transversal retrospectivo com dados de prontuários de pacientes com suspeita diagnóstica de diabetes mellitus tipo MODY, acompanhados no AENDI HC-FMRP-USP, no período entre 2012 e 2022. Os dados foram obtidos de 12 prontuários. Foi aplicada a calculadora de predição para MODY e analisadas informações demográficas, dados antropométricos, sintomas, tratamento, exames laboratoriais, histórico e familiar. Foram utilizadas estatísticas descritivas. Resultados: Apenas 1,25% dos pacientes acompanhados no AENDI são suspeitos de MODY. Nenhum paciente da amostra foi classificado como obeso. Polidipsia, polifagia, poliuria e perda de peso foram descritos em 22,22%, 25%; 44,44% e 28,57%, respectivamente. Terapia medicamentosa não foi necessária em 66,67% dos pacientes, porém, quando introduzida, 50% necessitaram de antidiabético oral. A média da glicemia de jejum e hemoglobina glicada, no caso novo, foi 128mg/dL e 6,02%, respectivamente. O histórico familiar foi positivo em 91,66% dos pacientes. Limitações do estudo: Os exames da análise molecular dos genes descritos como associados ao MODY foram coletados, mas seus resultados ainda não estão disponíveis. Conclusão: A suspeita de MODY, no serviço, foi condizente com o encontrado na literatura. Os resultados sugerem que o uso da calculadora pode ser feito como forma de triagem para os pacientes com suspeita da doença, devendo ser realizada em pacientes com valor preditivo positivo alto. Além disso, é necessário desenvolver estratégias específicas para a elaboração de um protocolo de rastreamento e acompanhamento dos pacientes com essa forma de diabetes, visando proporcionar um diagnóstico preciso e um gerenciamento clínico adequado.
Title in English
Clinical-laboratorial evaluation of patients with suspected Maturity-onset Diabetes of the Young (MODY) Diabetes Mellitus
Keywords in English
Diabetes mellitus
Hyperglycemia
MODY
Abstract in English
Introduction: Diabetes mellitus (DM) is a prevalent clinical condition that poses a diagnostic challenge in distinguishing between types 1 and 2 diabetes, from Maturity-Onset Diabetes of the Young (MODY). Objectives: This study aims to describe the clinical-laboratorial patterns of patients suspected of having MODY, who were followed at the Pediatric Diabetes Outpatient Clinic (Ambulatório de Diabetes Infantil - AENDI) of the Hospital das Clínicas, Ribeirão Preto Medical School, University of São Paulo (HC-FMRP-USP). Methodology: A retrospective cross-sectional study was conducted using medical records of patients with suspected MODY, who were followed at AENDI HC-FMRP-USP between 2012 and 2022. Data were collected from 12 medical records. Demographic information, anthropometric data, symptoms, treatment, laboratory tests, and family history were analyzed. Descriptive statistics were employed for data analysis. Results: Among the patients followed at AENDI, only 1,25% were suspected of having MODY. None of the patients were classified as obese. Polydipsia, polyphagia, polyuria, and weight loss were reported in 22,22%, 25%, 44,44%, and 28,57% of the cases, respectively. Drug therapy was unnecessary for 66,67% of the patients; however, among those who required treatment, 50% necessitated oral therapy. The fasting blood glucose and glycated hemoglobin levels for the new case were measured at 128,25mg/dL and 6.02%, respectively. Positive family history was observed in 91,06% of the patients. Study limitations: Molecular analysis exams for MODY-associated genes were collected, but their results are pending. Conclusion: The suspicion of MODY in the clinical setting was consistent with the findings in the literature. The results suggest that the use of the calculator can be employed as a screening tool for patients suspected of having the disease, particularly in those with a high positive predictive value. Furthermore, specific strategies need to be developed to establish a screening and follow-up protocol for patients with this form of diabetes, aiming to provide accurate diagnosis and appropriate clinical management.
 
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Publishing Date
2024-03-13
 
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