Трудности диагноза острой порфирии в терапевтическом стационаре: описание клинических случаев

Abstract

Two cases of acute porphyria are presented. Acute porphyria is a rare disease, a pathology associated with hereditary or acquired abnormalities of the biosynthesis of heme. The main features distinguishing these nosological forms are: the prevalence of precursors of porphyrins among laboratory-defined metabolites, rapid clinical progression of the disease; the absence of a correct diagnosis or late diagnosis resulting in life threatening neurological disorders. The main diagnostic difficulties are related to a non-specific character of clinical signs of acute intermittent porphyria, the clinical signs mimic a large range of somatic conditions, including emergency conditions. Certain difficulties for doctors are caused by the orphan nature of porphyria, clinical polymorphism, the difficulty to obtain pathogenetic drugs in medical institution for treatment of the disease in the Russian Federation.