RESUMO
Diabetic kidney disease (DKD) is a highly prevalent condition worldwide. It represents one of the most common complications arising from diabetes mellitus (DM) and is the leading cause of end-stage kidney disease (ESKD). Its development involves three fundamental components: the hemodynamic, metabolic, and inflammatory axes. Clinically, persistent albuminuria in association with a progressive decline in glomerular filtration rate (GFR) defines this disease. However, as these alterations are not specific to DKD, there is a need to discuss novel biomarkers arising from its pathogenesis which may aid in the diagnosis, follow-up, therapeutic response, and prognosis of the disease.
Assuntos
Diabetes Mellitus Tipo 2 , Nefropatias Diabéticas , Falência Renal Crônica , Humanos , Nefropatias Diabéticas/tratamento farmacológico , Diabetes Mellitus Tipo 2/metabolismo , Taxa de Filtração Glomerular , Biomarcadores , Progressão da DoençaRESUMO
RESUMEN Introducción: Las porfirias hepáticas agudas son un trastorno genético causado por actividad irregular en la síntesis del grupo hemo. Aunque son de baja incidencia, su presencia puede aumentar el riesgo de muerte y afectar la calidad de vida de los pacientes. Se realizó una búsqueda bibliográfica con un intervalo desde el año 2015 al 2020, sobre porfirias hepáticas agudas. Objetivos: Actualizar sobre las alternativas diagnósticas y terapéuticas para las porfirias hepáticas agudas en adultos. Desarrollo: La exposición a ciertos factores precipitantes como fármacos, infecciones y estrés, conllevan a una crisis aguda de porfiria, que desencadenan síntomas neuroviscerales y requiere hospitalización. Existen teorías aisladas que explican el mecanismo de daño durante el ataque agudo, como la hiperactividad autónoma, inflamación, disfunción endotelial, mitocondrial, lesión renal y neurotoxicidad. Sin embargo, el reconocimiento clínico de estos mecanismos sin un diagnóstico conocido de porfiria es un reto para el personal médico, debido a la presencia de síntomas y signos inespecíficos, lo que retrasa el diagnóstico. Debido a la dependencia de la hemina de por vida, se han optado por nuevas alternativas terapéuticas como la supresión genética y el trasplante hepático. El pronóstico es favorable cuando se realiza el diagnóstico a tiempo. Conclusiones: Las alternativas diagnósticas y terapéuticas para las porfirias hepáticas agudas en adultos han evolucionado hacia el trasplante ortotópico hepático y la terapia génica, la cual se ha convertido en un enfoque terapéutico prometedor y validado para el tratamiento de los pacientes con porfirias hepáticas.
ABSTRACT Introduction: Acute hepatic porphyria is a genetic disorder caused by irregular activity in the synthesis of the heme group. Although they are of low incidence, their presence can increase the risk of death and affect the quality of life of patients. A bibliographic search was carried out with a time interval from 2015 to 2020 on acute hepatic porphyria. Objectives: To update on the diagnostic and therapeutic alternatives for acute hepatic porphyria in adults. Development: Exposure to certain precipitating factors such as drugs, infections, and stress leads to an acute porphyria crisis, which triggers neurovisceral symptoms and requires hospitalization. There are isolated theories that explain the mechanism of damage during the acute attack, such as autonomic hyperactivity, inflammation, endothelial and mitochondrial dysfunction, kidney damage, and neurotoxicity. However, clinical recognition of these mechanisms without a known diagnosis of porphyria is challenging for medical personnel, due to the presence of nonspecific symptoms and signs, delaying diagnosis. Due to the dependence on hemin for life, new therapeutic alternatives such as gene suppression and liver transplantation have been chosen. The prognosis is favorable when the diagnosis is made in time. Conclusion: Diagnostic and therapeutic alternatives for acute hepatic porphyria in adults have evolved towards orthopedic liver transplantation and gene therapy, which has become a promising and validated therapeutic approach for the treatment of patients with hepatic porphyria.