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Biomédica

versão impressa ISSN 0120-4157versão On-line ISSN 2590-7379

Resumo

BUITRAGO, Juliana  e  SANTA, Sandra Viviana. Acute intermittent porphyria presenting as spontaneous hemothorax. Biomédica [online]. 2009, vol.29, n.3, pp.339-347. ISSN 0120-4157.

The porphyrias are inherited disorders of the heme biosynthetic pathway. They are relatively rare and often misdiagnosed; however, acute episodes can be curtailed by early administration of heme arginate. Acute intermittent porphyria is the commonest of acute forms of porphyria. Here, a case is presented of a 23-year-old male with acute intermittent porphyria who came to the emergency clinic with an unexplained abdominal pain. In addition, he exhibited spontaneous hemothorax (two liters of blood accumulated in the chest) as an unusual manifestation of the disease. The most relevant aspects of acute intermittent porphyria are discussed, along with its epidemiology, diagnosis, clinical presentation and treatment. Complexities and diagnostic requirements in making a diagnosis of porphyria are described.

Palavras-chave : hemothorax; porphyria; acute intermittent; abdomen; acute; abdominal pain; porphobilinogen; hydroxymethylbilane synthase.

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