[Variegata porphyria. Up to date concerning a recent case (author's transl)].
Variegata or mixed porphyria, an hereditary disease with autosomal dominant transmission occurs rarely in France. It associates, at the same time or during the evolution, the cutaneous manifestations or porphyria cutanea tarda hereditaria with the abdominal and neuropsychiatric symptoms of acute intermittent porphyria. The diagnosis evoked by the urine color requires confirmation by the dose of the porphyrins in the urine and above all in the feces. The danger in this disease results essentially from untimely prescription of medication which may lead to death by neurological problems. Prevention and detection in asymptomatic carriers of this disease is imperative. The treatment of an acute attack is symptomatic and etiopathogenic trying to reduce the ALA synthetase activity by giving glucose and hematin.
D000208:Acute Disease; D000328:Adult; D005243:Feces / Q000032:analysis; D005260:Female; D006801:Humans; D011164:Porphyrias / Q000175:diagnosis* / Q000628:therapy; D011166:Porphyrins / Q000032:analysis / Q000652:urine; D012871:Skin Diseases / Q000209:etiology
D011166:Porphyrins
la porphyrie variegata ou mixte. Mise au point à propos du'une nouvelle observation.