Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective

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 tim...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Holmes Rafael Algarín Lara, Elber Luis Osorio Rodríguez, Jhonny Jesus Patiño Patiño, Angie Paola Tavera Medina, Edwin Guevara Romero
Formato:	article
Lenguaje:	ES
Publicado:	ECIMED 2021
Materias:	porfirias hepáticas hemo hemina enfermedades genéticas. Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/c78d71e162be43fea97cff7aef428d89
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:c78d71e162be43fea97cff7aef428d89
record_format	dspace
spelling	oai:doaj.org-article:c78d71e162be43fea97cff7aef428d892021-12-03T13:28:51ZDiagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective1561-3046https://doaj.org/article/c78d71e162be43fea97cff7aef428d892021-12-01T00:00:00Zhttp://revmedmilitar.sld.cu/index.php/mil/article/view/1353https://doaj.org/toc/1561-3046Introduction: 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.Holmes Rafael Algarín LaraElber Luis Osorio RodríguezJhonny Jesus Patiño PatiñoAngie Paola Tavera MedinaEdwin Guevara RomeroECIMEDarticleporfirias hepáticashemoheminaenfermedades genéticas.MedicineRMedicine (General)R5-920ESRevista Cubana de Medicina Militar, Vol 50, Iss 4, Pp e02101353-e02101353 (2021)
institution	DOAJ
collection	DOAJ
language	ES
topic	porfirias hepáticas hemo hemina enfermedades genéticas. Medicine R Medicine (General) R5-920
spellingShingle	porfirias hepáticas hemo hemina enfermedades genéticas. Medicine R Medicine (General) R5-920 Holmes Rafael Algarín Lara Elber Luis Osorio Rodríguez Jhonny Jesus Patiño Patiño Angie Paola Tavera Medina Edwin Guevara Romero Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective
description	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.
format	article
author	Holmes Rafael Algarín Lara Elber Luis Osorio Rodríguez Jhonny Jesus Patiño Patiño Angie Paola Tavera Medina Edwin Guevara Romero
author_facet	Holmes Rafael Algarín Lara Elber Luis Osorio Rodríguez Jhonny Jesus Patiño Patiño Angie Paola Tavera Medina Edwin Guevara Romero
author_sort	Holmes Rafael Algarín Lara
title	Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective
title_short	Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective
title_full	Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective
title_fullStr	Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective
title_full_unstemmed	Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective
title_sort	diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective
publisher	ECIMED
publishDate	2021
url	https://doaj.org/article/c78d71e162be43fea97cff7aef428d89
work_keys_str_mv	AT holmesrafaelalgarinlara diagnosticandtherapeuticalternativesforacutehepaticporphyriasinadultsfromacurrentperspective AT elberluisosoriorodriguez diagnosticandtherapeuticalternativesforacutehepaticporphyriasinadultsfromacurrentperspective AT jhonnyjesuspatinopatino diagnosticandtherapeuticalternativesforacutehepaticporphyriasinadultsfromacurrentperspective AT angiepaolataveramedina diagnosticandtherapeuticalternativesforacutehepaticporphyriasinadultsfromacurrentperspective AT edwinguevararomero diagnosticandtherapeuticalternativesforacutehepaticporphyriasinadultsfromacurrentperspective
_version_	1718373229964296192

Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective

Ejemplares similares