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  •  Clinical case of acute intermittent porphyria

    Редактор | 2021, Clinical case, Practical medicine part 19 №4. 2021 | 26 ноября, 2021

    D.D. MUKHAMETOVA1, V.S. VASICHKINA1, N.A. CHEREMINA2, M.A. KUNST1, 2

     1Kazan State Medical University of the Ministry of Healthcare of the Russian Federation, Kazan

    2Republic Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan

     Contact details:

    Mukhametova D.D. — PhD (medicine), Assistant Lecturer of the Department of Hospital Therapy

    Address: 49 Butlerov St., Kazan, Russian Federation, 420012, tel.: +7 (843) 237-32-61, e-mail: muhdilyara@gmail.com

    The article presents a clinical case of a patient with acute intermittent porphyria, treated in the Hematology Department of the Republic Clinical Hospital of Tatarstan. The patient was hospitalized several times with suspected acute surgical pathology before the final diagnosis was made. Acute intermittent porphyria is manifested by various nonspecific symptoms, making the doctors prescribe multiple diagnostic and therapeutic manipulations without any effect. A literature review shows that diagnosis of acute intermittent porphyria is often delayed and treatment does not start on time. Also, the lack of medications for pathogenetic therapy complicates treatment and increases lethality. The article describes all stages of the diagnostic search and therapeutic methods of this disease.

    Key words: abdominal pain, acute intermittent porphyria, porphobilinogen.

     REFERENCES

    1. Savchenko V.G. Programmnoe lechenie zabolevaniy sistemy krovi. Tom II. Protokoly lecheniya porfiriy [Programmed treatment of diseases of the blood system. Volume II. Porphyria treatment protocols]. Moscow: Praktika, 2012.
    2. Pivnik A.V., Karpova I.V., Pustovoyt Ya.S. et al. Clinical manifestations of disorders of porphyrin metabolism. Terapevticheskiy arkhiv, 2003, no.7, pp. 68–73 (in Russ.).
    3. Zagidullina K.L, Popova N.A., Astashina E.E. Difficulties in the diagnosis of acute intermittent porphyria in clinical practice. Kazanskiy meditsinskiy zhurnal, 2016, no. 6, pp. 975–978 (in Russ.).
    4. Pustovoyt Ya.S., Surin V.L., Zingerman B.V., Gorgidze L.A et al. Russian register of drugs used in patients with impaired porphyrin metabolism. Gematologiya i transfuziologiya, 2015, no. 3, pp. 39–43 (in Russ.).
    5. Clinical guidelines for the diagnosis and treatment of acute porphyrias, ed. advice: V.G. Savchenko et al. Natsional’noe gematologicheskoe obshchestvo, 2014. 31 p.
    6. Akhmadeev A.R., Muslimova E.V., Apakova M.A., Terekhova S.N. Acute intermittent porphyria (case description). Prakticheskaya meditsina, 2011, no. 7, pp. 168–169 (in Russ.).
    7. Lim H.W., Murphy G.M. The porphyrias. Clin Dermatol, 1996, no. 14, pp. 10–21.

    Метки: 2021, abdominal pain, acute intermittent porphyria, D.D. MUKHAMETOVA, M.A. KUNST, N.A. CHEREMINA, porphobilinogen, Practical medicine part 19 №4. 2021, V.S. VASICHKINA

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