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Revista de la Asociación Médica del Centro Médico ABC

2004, Number 2

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An Med Asoc Med Hosp ABC 2004; 49 (2)

Acute porphyrias

Monroy SS

Language: Spanish
References: 44
Page: 87-94
PDF size: 72.83 Kb.


ABSTRACT

The porphyrias are a group of metabolic diseases that result from autosomally inherited lack of functional enzymes in the hem pathway. These conditions are characterized by the presence of d-aminolevulinic acid and/or porphobilinogen in urine and porphyrins in urine and/or feces that cause neurologic and cutaneous symptoms or both. In acute intermittent porphyria, the typical pattern consists of acute attacks of abdominal pain, nausea, vomiting, severe constipation, psychiatric disorders, and neurological abnormalities that can progress to bulbar paralysis. Hereditary coproporphyria is much rarer than acute intermittent porphyria; the systemic and neuropathic clinical manifestations of the two conditions are the same, except that extreme cutaneous photosensibility occurs in one third of the coproporphyria patients. In porphyria variegata photosensibility is common and in addition vesicles, bullae, cutaneous hyperpigmentation and hypertrichosis are seen; skin lesions may be the sole presentation in this porphyria. The risk factors for the onset of acute attacks are the use of certain drugs, ingestion of alcohol, hypocaloric diets or fasting, infection and the menstrual cycle. The administration of glucose and hematinics suppress the δ-aminolevulinic acid-sinthetase activity and prevent or ablate acute attacks.


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