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...
| Autores: | , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2021 |
| País: | Perú |
| Institución: | Sociedad de Gastroenterología del Perú |
| Repositorio: | Revista de Gastroenterología del Perú |
| Idioma: | español |
| OAI Identifier: | oai:ojs.revistagastroperu.com:article/1258 |
| Acceso en línea: | https://revistagastroperu.com/index.php/rgp/article/view/1258 |
| Access Level: | acceso abierto |
| Palabra clave: | Porphyrias Porphyria acute intermittent erythropoietic Porphobilinogen Aminolevulinic acid Abdominal pain Porfirias Porfiria intermitente aguda Porfiria eritropoyética Porfobilinógeno Ácido aminolevulínico Dolor abdominal |
| Sumario: | 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. |
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