ArticleBiomedica : revista del Instituto Nacional de Salud2020
Acute intermittent porphyria: A case report
Article in Biomedica : revista del Instituto Nacional de Salud, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- A Diagnostic Challenge in the Emergency Department: Acute Intermittent Porphyria Unmasked After Cabergoline Exposure.Cureus · 2026Article
- [Acute porphyria as a rare etiology of PRES]Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2024Article
- [Abdominal pain with neuropsychiatric symptoms and ventilatory failure as a presentation of acute porphyria].Revista medica del Instituto Mexicano del Seguro Social · 2023Article
- Uncontrolled Acute Intermittent Porphyria as a Cause of Spontaneous Abortion.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2020Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The term ‘porphyria’ comes from the Greek ‘porphyra’. It refers to a heterogeneous group of metabolic disorders caused by the enzymatic deficiency in the biosynthesis of the heme group. Acute intermittent porphyria is caused by a deficiency of the porphobilinogen deaminase enzyme. A 40-year-old woman presented with abdominal pain for ten days (which required laparotomy that evidenced no surgical pathology), severe hydroelectrolytic disorder due to hyponatremia and resistant hypokalemia, persistent tachycardia and hypertension. Seven days later, she developed acute flabby quadriparesis and presented a single generalized tonic-clonic convulsive crisis. Neurophysiological studies supported mixed axonal polyneuropathy and urine results of porphobilinogen and porphyrins were elevated. After acute intermittent porphyria was diagnosed, hemin was administered, which stabilized the patient’s clinical signs and normalized the porphobilinogen. The prevalence of this entity is 1 in 2,000 people. It is an autosomal dominant disease, which affects mainly women between 20 and 40 years of age. This entity manifests with neurological and visceral symptoms. Management consists of hematin and dextrose administration avoiding hypotonic solutions because of the risk of exacerbating hyponatremia.
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