Flaccid paralysis and abdominal pain, an approach to porphyrias: a literature review and case series

Porphyrias are inherited metabolic disorders caused by enzymatic deficiencies of HEM group biosynthesis. Most common in childhood at the third and fourth decade of life. They are characterized by increased levels of porphyrins, and various cutaneous, neurological, and visceral manifestations. We des...

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Detalhes bibliográficos
Autores: Nieto González, Manuel Alejandro, Millán Pérez, Sonia Patricia, Correa Aldana, Alejandra, Galvis Chaparro, Maria Paula, Herrera Centeno, María Paula, Correa Cortés, Valentina
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2021
País:Perú
Recursos:Sociedad de Gastroenterología del Perú
Repositório:Revista de Gastroenterología del Perú
Idioma:espanhol
OAI Identifier:oai:ojs.revistagastroperu.com:article/1258
Acesso em linha:https://revistagastroperu.com/index.php/rgp/article/view/1258
Access Level:Acceso aberto
Palavra-chave:Porphyrias
Porphyria
acute intermittent
erythropoietic
Porphobilinogen
Aminolevulinic acid
Abdominal pain
Porfirias
Porfiria intermitente aguda
Porfiria eritropoyética
Porfobilinógeno
Ácido aminolevulínico
Dolor abdominal
Descrição
Resumo:Porphyrias are inherited metabolic disorders caused by enzymatic deficiencies of HEM group biosynthesis. Most common in childhood at the third and fourth decade of life. They are characterized by increased levels of porphyrins, and various cutaneous, neurological, and visceral manifestations. We describe a series of 3 cases of female patients in the third decade of life with abdominal pain and a wide range of clinical manifestations and short and long-term complications. Our review contributes to the early recognition of these diseases to establish early specific managements to impact on irreversible outcomes.