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Revista Científica Ciencia Médica

Print version ISSN 1817-7433On-line version ISSN 2220-2234

Abstract

CABRERA ARANDIA, Mariela; ORTIZ APARICIO, Freddy Miguel; ESPINOZA BALDERRAMA, Boris  and  CLAURE DEL GRANADO, Rolando. Acute intermittent porphyriathe importance of expanding the differential diagnosis perspective. Rev Cient Cienc Méd [online]. 2012, vol.15, n.2, pp.45-48. ISSN 1817-7433.

Acute intermittent porphyria is an autosomal dominant disorder, caused by genetic deficiency of porphobilinogen deaminase, an enzyme involved in the biosynthesis of heme, is a disease with high mortality, and rarely (onot common) observed in our country. In October 2011, the Social Security Hospital Universitario reported a case of acute intermittent porphyria, 23 year old patient, female, admitted with acute abdominal pain of ahigh level of intensity in mesogastrium. In addition to this, symptoms are tachycardia with continouos precense during hospitalization, fever and leukocytosis without apparent infectious focus, leading acute renal failure, metabolic acidosis and peripheral neuropathy. The specific symptoms sugestor pathologies that carefal analysis to approximate diagnos is by urine photosensitivity the definitive diagnosis, which was confirmed by the determination of total porphyrins in blood and urine and porphobilinogen and delta-aminolevulinic acid in urine made in Buenos Aires where patient received timely treatment.

Keywords : Acute Intermittent-Porphyria; Abdominalpain; Transverse Myelitis; Polymyositis.

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