Lege Artis Medicinae

[Acute porphyrias]

TASNÁDI Gyöngyi1, NAGY László1

DECEMBER 23, 1992

Lege Artis Medicinae - 1992;2(12)

[Acute porphyrias - acute intermittent porphyria, variegate porphyria, hereditary coproporphyria and plumboporphyria – are due to lowered activity of the enzymes of the heme biosynthesis. All of them are inherited as autosomal dominants. From the pathobiochemical and clinical points of view there are 4 phases of the disease: genetic phase, compensated latent and decompensated latent phases and the generally life-threatening acute at tack. The clinical symptoms are caused by peripheral and autonomic neuropathy, which are primarily induced by various precipitating factors: in part by endogenous hormones but mainly by drugs, alcohol and severe infections. The diagnosis is based on measurement of the activities of the enzymes and porphyrins and their precursors in urine and feces. The therapy includes the use of glucose infusions administered in large doses and haematin. However the most effective mode of treatment is to prevent the acute syndrome. It is crucial to recognize the disease in the earliest (genetic) phase because in this way it is possible to avoid inducing factors. 91 patients are under permanent control and care by the authors, but there are many more patients in Hungary according to European estimates. Discovery of these patients would serve prevention.]


  1. MÁV Kórház-Budapest III. Belgyógyászat



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