Family case of acute intermittent porphyria
Abstract
Two cases with newly diagnosed acute intermittent porphyria in patients who are direct relatives of the first and second generation (son and mother) are described. The clinical symptomatology of the manifestation of acute intermittent porphyria is analyzed. For the verification of the disease, a quantitative determination of the excretory profile of porphyrins, especially the porphyrin precursors: δ-aminolevulinic acid and porphobilinogen, is recommended. Patients with newly diagnosed acute intermittent porphyria should undergo a comprehensive genetic examination. The results of this study allow us to identify mutations in genes that can determine the likely risk of hereditary chronic liver disease.
About the Authors
A. B. Krivosheev
Novosibirsk State Medical University
Russian Federation
Russian Federation
M. A. Kondratova
Novosibirsk State Medical University
Russian Federation
Russian Federation
L. Ya. Kupriyanova
City Clinical Hospital No. 1
Russian Federation
Russian Federation
K. Yu. Boyko
City Clinical Hospital No. 1
Russian Federation
Russian Federation
T. A. Tuguleva
Scientific and Consulting Centre 'Reafan'
Russian Federation
Russian Federation
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Review
For citations:
Krivosheev A.B., Kondratova M.A., Kupriyanova L.Ya., Boyko K.Yu., Tuguleva T.A. Family case of acute intermittent porphyria. Medical alphabet. 2018;3(30):22-24. (In Russ.)
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