[Hereditary afibrinogenemia: A literature review and clinical observations].

Autor: Yakovleva EV; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Surin VL; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Selivanova DS; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Sergeeva AM; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Gonсharova MV; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Demidova EY; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Soboleva NP; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Makhinya SA; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Dezhenkova AV; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Likhacheva EA; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia., Zozulya NI; National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia.
Jazyk: ruština
Zdroj: Terapevticheskii arkhiv [Ter Arkh] 2016; Vol. 88 (12), pp. 120-125.
DOI: 10.17116/terarkh20168812120-125
Abstrakt: Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L. The clinical manifestations of the disease can be both bleeding and thromboses of different localizations, which is determined by the multifunctional role of fibrinogen in hemostasis. The described cases demonstrate different clinical phenotypes of the disease. In both cases the diagnosis was confirmed by genetic examinations that revealed homozygous mutations in the fibrinogen A genes. The nature of the mutations assumes consanguineous marriages, as confirmed by the results of a genealogical analysis. Fibrinogen preparations are promising in treating afibrinogenemia in Russia.
Databáze: MEDLINE
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