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Differential diagnosis of acute abdominal pain – acute intermittent porphyria

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Author(s): Mislav Klobučić | Duška Šklebar | Renata Ivanac | Dragica Vrabec Matković | Anita Jug-Klobučić | Ivan Šklebar

Journal: Medicinski Glasnik
ISSN 1840-0132

Volume: 8;
Issue: 2;
Start page: 298;
Date: 2011;
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Keywords: intermittent porphyria | autosomal disorder | abdominal pain

ABSTRACT
Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP is dominatedby a colicky type pain, which does not subside after taking usual analgesics. Additional frequent symptoms are vomiting, hypertension, peripheral neuropathy, seizures, depression, delirium and coma. This paper reported a case of a twenty-fi- ve-year-old female patient, who had undergone a period of six days between the first presentationto the medical department and the diagnosis confirmation. It has accentuated possible mistakes in symptomatic therapy administration as well as dangers of a delayed diagnosis.
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