Clinical manifestations of porphyrin metabolism disorders

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Aim. To characterize patients -with various nosological unities ыо/porphyria in accordance with their
age, clinical symptoms, provoking factors, therapy and outcome.
Material and methods. Patients with acute intermittent porphyria (43), hereditary coproporphyria (8),
variegate porphyria (3), porphyria cutanea tarda (7), hepatoerythropoietic porphyria (1), and hereditary
erythropoietic porphyria (2) were studied. One patient was suspected of porphyria caused by deficiency
of delta-aminolevulenic acid dehydrogenase.
Results. The patients were from the CIS. The overwhelming majority of them were young and middleaged
subjects. Rapid development of the disease and severe neurological symptoms were predominantly
observed in patients with acute forms of porphyria.
Conclusion. Early diagnosis of porphyrin metabolism disorders makes it possible to decrease abruptly the
number of cases leading to severe complications, disability, and fatal outcome. The use of inexpensive
methods of screening of porphyrin metabolism disorders provides a promising approach to solving this
problem. These methods should be used in municipal hospitals. In addition, asymptomatic carriers of defective
gene should be revealed at the preclinical stage using various methods of molecular genetic assay


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