Abstract

LOZANO L, ABNER; TOVAR P, OSWALDO JAVIER  and  ORTIZ T, CARLOS ANDRÉS. ACUTE PORPHYRIA: CASE REPORT AND REVIEW. rev.fac.med [online]. 2008, vol.16, n.1, pp.106-114. ISSN 0121-5256.

The acute porphyries include a group of genetic disorders in the heme biosynthesis, that cause neurovisceral manifestations that mimic many medical conditions, psychiatric illnesses and sometimes, it even compromises the patients life. The lack of clinical recognition and delay in diagnosis, often retard the specific treatment and follow an increase in the morbimortality. The diagnosis can be quickly confirmed when demonstrating levels markedly high of porphobylinogen, and delta-aminolevulínic acid in urine and total porphyirines in blood and urine. The therapy with intravenous Hemine started as soon as possible is the most effective treatment. The trigger factors should be identified and minimized. An early diagnosis and appropriate treatment thoroughly improves its prognosis and prevents the development of further complications. In this case report we show the typical manifestations of acute porphyria in a young woman, in which case the diagnosis was not delayed, the problem was the attainment of the specific treatment which was not available in Colombia and the patient died without treatment.

Keywords : Porphyrias; heme; aminolevulinic acid.

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