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1.
Med. clín (Ed. impr.) ; 152(1): 19-21, ene. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-181669

RESUMO

Introducción: La diabetes tipo MODY engloba un grupo heterogéneo de formas monogénicas de diabetes de baja prevalencia. Pacientes y métodos: Presentamos un caso clínico con clínica cardinal, diabetes e insuficiencia renal sin acidosis, con antecedentes familiares de diabetes y padre monorreno. Resultados: Dado el aumento de obesidad y antecedentes familiares de diabetes en la población general, su sospecha diagnóstica no resulta fácil. Distinguir diabetes tipo MODY de DM1 y DM2 es crucial ya que el tratamiento óptimo y el riesgo de complicaciones varía con el defecto genético subyacente. Discusión: Un adecuado diagnóstico precisa de una historia clínica orientada y detallada, permitiendo una identificación más temprana de los miembros en riesgo de la familia y adecuar el tratamiento, ya que muchos de estos pacientes pueden ser tratados con éxito en monoterapia retirando la insulinoterapia innecesaria


Introduction: MODY diabetes encompasses heterogeneous group of monogenic forms of diabetes with low prevalence. It is not easily diagnosed because of the increase in obesity and family history of diabetes in the general population. Patients and methods: We present a clinical case with cardinal symptoms, diabetes,renal insufficiency with no acidosis and with a family history of diabetes and renal agenesis. Results: Distinguishing MODY diabetes from DM1 and DM2 is very important to ensure optimal treatment, and because the risk of complications depends on each genetic defect. A proper diagnosis needs a detailed medical history. Discussion: An earlier identification of family members at risk and a correct and individualised treatment could be possible. Many of these patients can be managed successfully in monotherapy without insulin therapy


Assuntos
Humanos , Masculino , Adulto , Rim Único/epidemiologia , Diabetes Mellitus/etiologia , Obesidade/epidemiologia , Insulina Glargina/administração & dosagem , Rim Único/complicações , Diabetes Mellitus/genética , Obesidade/complicações , Índice Glicêmico , Diagnóstico Diferencial
2.
Med Clin (Barc) ; 152(1): 19-21, 2019 01 04.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29525113

RESUMO

INTRODUCTION: MODY diabetes encompasses heterogeneous group of monogenic forms of diabetes with low prevalence. It is not easily diagnosed because of the increase in obesity and family history of diabetes in the general population. PATIENTS AND METHODS: We present a clinical case with cardinal symptoms, diabetes,renal insufficiency with no acidosis and with a family history of diabetes and renal agenesis. RESULTS: Distinguishing MODY diabetes from DM1 and DM2 is very important to ensure optimal treatment, and because the risk of complications depends on each genetic defect. A proper diagnosis needs a detailed medical history. DISCUSSION: An earlier identification of family members at risk and a correct and individualised treatment could be possible. Many of these patients can be managed successfully in monotherapy without insulin therapy.


Assuntos
Diabetes Mellitus Tipo 2/diagnóstico , Rim Único/complicações , Adulto , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 2/genética , Diagnóstico Diferencial , Fator 1-beta Nuclear de Hepatócito/genética , Humanos , Masculino , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/etiologia
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