RESUMO
INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a rare disease due to a single gene mutation that affects several family members in most cases. The Krüppel-like factor 11 (KLF11) gene mutation is associated with decreased insulin sensitivity to high glucose levels. KLF 11 has been implicated in the pathogenesis of MODY type 7 but given its low prevalence, prolonged subclinical period, and the emergence of new information, doubts are raised about its association. METHODS: A literature search of the PubMed, Scopus, and EBSCO databases was performed. The terms "Diabetes Mellitus, Type 2/genetics", "Mason-Type Diabetes" , "Maturity-Onset diabetes of the young", "KLF11 protein, human", and "Maturity-Onset Diabetes of the Young, Type 7" were used"., "Diagnosis" The search selection was not standardized. RESULTS: The KLF1 mutation is rare and represents <1% of the mutations associated with monogenic diabetes. Its isolation in European family lines in the first studies and the emergence of new variants pose new diagnostic challenges. This article reviews the definition, epidemiology, pathophysiology, diagnosis, and treatment of MODY type 7. CONCLUSION: MODY type 7 diabetes represents a rare form of monogenic diabetes with incomplete penetrance. Given its rarity, its association with impaired glucose metabolism has been questioned. Strict evaluation of glycemic control and the appearance of microvascular complications are key areas in the follow-up of patients diagnosed with MODY 7. More studies will be required to characterize the population with KLF11 mutation and clarify its correlation with MODY.
Assuntos
Diabetes Mellitus Tipo 2 , Fator XI , Humanos , Fator XI/genética , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/diagnóstico , Mutação , Insulina , Proteínas Repressoras/genética , Proteínas Reguladoras de Apoptose/genéticaRESUMO
Abstract There is a high prevalence of cardiac stimulation therapy complications; however, they are frequently forgotten by medical personnel. Cardiomyopathy secondary to biventricular dyssynchrony due to high right ventricular stimulation is a frequent cause of heart failure, increasing the risk of death and hospitalization and decreasing the quality of life of patients with pacemakers. We present a case of a patient who developed heart failure. The most common causes of left ventricular dysfunction were ruled out, and it was determined to be secondary to pacemaker-induced cardiomyopathy. The patient's device was changed to biventricular cardiac resynchronization therapy, with an adequate clinical response. We highlight the importance of looking for complications related to right ventricular stimulation devices in patients with heart failure, and of considering a change to biventricular stimulation within the treatment plan. (Acta Med Colomb 2019; 44. DOI:https://doi.org/10.36104/amc.2019.1300).
Resumen Las complicaciones derivadas de la terapia de estimulación cardiaca tienen alta prevalencia, sin embargo, a menudo son olvidadas por el personal médico. La miocardiopatía secundaria a la disincronía biventricular por la alta carga de estimulación ventricular derecha es una causa frecuente de falla cardiaca, aumentando el riesgo de muerte, hospitalizaciones y disminuyendo la calidad de vida en los pacientes con marcapasos. Presentamos un caso de una paciente que desarrolló falla cardiaca, se descartaron las causas más comunes de disfunción ventricular izquierda y se consideró secundaria a miocardiopatía inducida por marcapasos, se le realizó cambio de dispositivo por terapia de resincronización cardiaca biventricular con adecuada respuesta clínica. Resaltamos la importancia de buscar en los pacientes con falla cardiaca complicaciones asociadas a dispositivos de estimulación ventricular derecha y considerar dentro del tratamiento el cambio a estimulación biventricular. (Acta Med Colomb 2019; 44. DOI:https://doi.org/10.36104/amc.2019.1300).