Porfirias: quadro clínico, diagnóstico e tratamento

Abstract

As porfirias são doenças incomuns e de herança genética na maior parte dos casos. As porfirias são divididas em eritropoiéticas, hepáticas agudas e hepáticas crônicas. Os subtipos de maior relevância clínica são a porfiria cutânea tarda e a porfiria intermitente aguda. O diagnóstico das porfirias pode ser bastante difícil, dada a sobreposição de quadros clínicos e achados bioquímicos. A precisão do diagnóstico depende da dosagem de porfirinas urinárias e fecais, da análise da atividade enzimática de eritrócitos e, eventualmente, da pesquisa de mutações. O objetivo do presente artigo é realizar revisão literária das porfirias, com ênfase no diagnóstico e tratamento de seus diversos subtipos.

Porfiria aguda intermitente, um importante e raro diagnóstico diferencial de abdômen agudo: relato de caso e revisão da literatura

“…This pathway provides the heme required to form several relevant molecules (e.g., hemoglobin, myoglobin and cytochrome). (1,2) Porphyrias are metabolic disorders related to the dysfunction of one of the eight enzymes that are part of the heme biosynthesis pathway. The clinical manifestations of porphyrias are characterized by neurovisceral symptoms, cutaneous symptoms, or both.…”

“…The clinical features are not dependent of the reduced synthesis of heme but instead on the type of accumulated porphyrin, the site where it is produced (liver or bone marrow) and accumulates, the way it is excreted and the toxicity mechanism (neurotoxicity, photosensitivity or both). (1)(2)(3)(4)(5) There are eight types of porphyria, which are related to each specific enzyme. The disease is categorized according to the site of enzyme inactivity (erythropoietic or hepatic) and to its presentation (either acute or chronic) ( Table 1).…”

“…Other relevant factors include a history of previous episodes of porphyric crises, a family history suggesting porphyria and the presence of possible triggering factors (e.g., drugs, alcohol, and premenstrual symptoms). (2,3,9,(11)(12)(13) The gold standard for porphyria diagnosis is DNA analysis. However, in addition to its considerable costs, this test is not applicable for acute porphyric crises.…”

“…The usual clinical presentation is an abdominal pain of unknown origin associated with neurological signs and symptoms, psychiatric and hydroelectrolytic disorders in women > 30 years old with a history of recurrent crises in association with predisposing factors and a family history of porphyria. (1)(2)(3)(4)(5) This article reports on a case of porphyric crisis that had a differential diagnosis of acute abdomen and Guillain-Barre syndrome. In addition, a narrative review is Fernando Rogério Lara Ferreira 1,2 , Carlos Augusto de Almeida Silva 2 , Samantha Xena da Costa 2 1.…”

“…(1)(2)(3)(4)(5) This article reports on a case of porphyric crisis that had a differential diagnosis of acute abdomen and Guillain-Barre syndrome. In addition, a narrative review is Fernando Rogério Lara Ferreira 1,2 , Carlos Augusto de Almeida Silva 2 , Samantha Xena da Costa 2 1. Fundação Hospital Adriano Jorge, Manaus (AM), Brazil.…”