Señalización celular de enfermedades crónicas no transmisibles: Revisión de la poliquistosis renal
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Fecha
2021
Autores
Castellar Arevalo, Adriana
Baute Ávila, Diana Carolina
Buelvas Ardila, Liana Luz
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias de la Salud
Facultad de Ciencias de la Salud
Resumen
Antecedentes: La poliquistosis renal es una enfermedad genética que afecta a más de 13 millones de personas a nivel mundial, siguiendo el patrón de herencia mendeliano al transmitirse de forma autosómica dominante o autosómica recesiva, por mutaciones en los genes PKD1, PKD2, PKHD1, donde los dos primeros genes mencionados codifican para las proteínas policistinas 1 y 2 y el tercer gen mencionado codifica para la proteína fibrocistina. Esta patología se caracteriza por la presencia de quistes renales unilaterales o bilaterales que van remplazando el parénquima renal, además de evolucionar hasta el punto de ocasionar una insuficiencia renal con requerimiento de terapia de remplazo renal, inclusive se estima que un 8% a un 10% de los pacientes que reciben diálisis es causa de la poliquistosis renal que avanzo hasta ocasionar una insuficiencia renal terminal, generando una gran carga al sistema de salud, así como un gran impacto en la calidad de vida de estos pacientes
Objetivo: Por lo que esta revisión tiene como objeto de estudio Describir la influencia de las vías de señalización celular en la poliquistosis renal. Objetivos específicos: Identificar las mutaciones genéticas y su participación en la fisiopatología de la enfermedad poliquística renal, determinar los mecanismos moleculares implicados en el desarrollo de la enfermedad poliquística renal y describir las vías de señalización celular en las alteraciones en los cilios primarios que desencadenan la enfermedad.
Métodos: Se realizó una búsqueda bibliográfica sobre la señalización celular de la poliquistosis renal, así como de otros apartados importantes para su mayor comprensión, en especial su base genética, dentro de la revisión de la literatura se utilizaron estudios publicados desde el 2010 al 2020, de los cuales fueron tomados en las bases de datos del sciencedirect, Clinical key, PUBMED, revistas virtuales y Scielo, con los siguientes términos enfermedad poliquística renal, poliquistosis renal autosómica domínate, poliquistosis renal autosómica recesiva.
Resultados: De los artículos seleccionados, se escogieron los siguientes datos para su análisis: año de la publicación, características genéticas de las presentaciones de la enfermedad renal poliquística, fisiopatología y genes implicados, manifestaciones y diagnóstico. De este modo se examinaron 50 artículos de los cuales se tomaron 30 para esta revisión.
Conclusiones: Al ser una enfermedad genética, donde se afectan genes como el PKD1, PKD2 y PKHD1, que en condiciones normales codifican las proteínas policistinas y fibrocistina, que están presentes en los cilios primarios, se va a desencadenar alteraciones en las vías moleculares y metabólicas que promueven a la poliquistosis renal, que de forma general lo que hacen es aumentar la liberación de calcio intracelular y los niveles de AMPc, habiendo un aumento de calcio intracelular que estimula la señalización por MAPK/ERK (Ras-Raf- MEK-ERK) para la proliferación celular en el epitelio renal, donde se evidencian los cambios.
Background: Polycystic kidney disease is a genetic disease that affects more than 13 million people worldwide, following the Mendelian inheritance pattern by being transmitted in an autosomal dominant or autosomal recessive manner, due to mutations in the PKD1, PKD2, PKHD1 genes, where both the first mentioned genes code for the polycystin proteins 1 and 2 and the third mentioned gene codes for the fibrocystin protein. This pathology is characterized by the presence of unilateral or bilateral renal cysts that are replacing the renal parenchyma, in addition to evolving to the point of causing renal failure requiring renal replacement therapy, including an estimated 8% to 10% of patients receiving dialysis is the cause of polycystic kidney Disease that progressed to end-stage renal failure, generating a great burden on the health system, as well as a great impact on the quality of life of these patients. Objective: Therefore, the purpose of this review is to describe the influence of cell signaling pathways in polycystic kidney disease. Specific objectives: Identify genetic mutations and their participation in the pathophysiology of polycystic kidney disease, determine the molecular mechanisms involved in the development of polycystic kidney disease and describe the cellular signaling pathways in the alterations in the primary cilia that trigger the disease. Methods: A bibliographic search was carried out on the cellular signaling of polycystic kidney disease, as well as other important sections for its greater understanding, especially its genetic basis, within the literature review studies published from 2010 to 2020 were used, of the which were taken from the databases of sciencedirect, Clinical key, PUBMED, virtual magazines and Scielo, with the following terms polycystic kidney disease, autosomal polycystic kidney disease dominate, autosomal recessive polycystic kidney disease. Results: From the selected articles, the following data were chosen for analysis: year of publication, genetic characteristics of the presentations of polycystic kidney disease, pathophysiology and genes involved, manifestations and diagnosis. In this way, 50 articles were examined, of which 30 were taken for this review. Conclusions: Being a genetic disease, where genes such as PKD1, PKD2 and PKHD1 are affected, which in normal conditions encode the polycystin and fibrocystin proteins, which are present in the primary cilia, it will trigger alterations in the molecular and metabolic pathways that promote to polycystic kidney disease, which generally increases intracellular calcium release and cAMP levels, with an increase in intracellular calcium that stimulates MAPK / ERK (Ras-Raf-MEK-ERK) signaling for the cell proliferation in the renal epithelium, where the changes are evident.
Background: Polycystic kidney disease is a genetic disease that affects more than 13 million people worldwide, following the Mendelian inheritance pattern by being transmitted in an autosomal dominant or autosomal recessive manner, due to mutations in the PKD1, PKD2, PKHD1 genes, where both the first mentioned genes code for the polycystin proteins 1 and 2 and the third mentioned gene codes for the fibrocystin protein. This pathology is characterized by the presence of unilateral or bilateral renal cysts that are replacing the renal parenchyma, in addition to evolving to the point of causing renal failure requiring renal replacement therapy, including an estimated 8% to 10% of patients receiving dialysis is the cause of polycystic kidney Disease that progressed to end-stage renal failure, generating a great burden on the health system, as well as a great impact on the quality of life of these patients. Objective: Therefore, the purpose of this review is to describe the influence of cell signaling pathways in polycystic kidney disease. Specific objectives: Identify genetic mutations and their participation in the pathophysiology of polycystic kidney disease, determine the molecular mechanisms involved in the development of polycystic kidney disease and describe the cellular signaling pathways in the alterations in the primary cilia that trigger the disease. Methods: A bibliographic search was carried out on the cellular signaling of polycystic kidney disease, as well as other important sections for its greater understanding, especially its genetic basis, within the literature review studies published from 2010 to 2020 were used, of the which were taken from the databases of sciencedirect, Clinical key, PUBMED, virtual magazines and Scielo, with the following terms polycystic kidney disease, autosomal polycystic kidney disease dominate, autosomal recessive polycystic kidney disease. Results: From the selected articles, the following data were chosen for analysis: year of publication, genetic characteristics of the presentations of polycystic kidney disease, pathophysiology and genes involved, manifestations and diagnosis. In this way, 50 articles were examined, of which 30 were taken for this review. Conclusions: Being a genetic disease, where genes such as PKD1, PKD2 and PKHD1 are affected, which in normal conditions encode the polycystin and fibrocystin proteins, which are present in the primary cilia, it will trigger alterations in the molecular and metabolic pathways that promote to polycystic kidney disease, which generally increases intracellular calcium release and cAMP levels, with an increase in intracellular calcium that stimulates MAPK / ERK (Ras-Raf-MEK-ERK) signaling for the cell proliferation in the renal epithelium, where the changes are evident.
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Palabras clave
Riñón poliquístico autosómica dominante, Riñón poliquístico autosómico recesivo, Autosomal dominant polycystic kidney, Autosomal recessive polycystic kidney
