A Still Rare Case of Congenital Afibrinogenemia

I. Tlamçani, A. Krich, Fatima Zahrae El Hamdi, M. A. Hassani
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Abstract

Congenital afibrinogenemia is characterized by the decrease or the absence of fibrinogen synthesis. It is a rare pathology that is transmitted autosomal recessive mode, with variable clinical demonstrations. The biological diagnosis consists in the presence of traces or absence of fibrogen with blood incoagulability. The coverage of this disease bases itself on the preventive treatment and replacement therapy based on fresh frozen plasma or fibrinogen concentrate. Through this case, we recall the various aspects of these rare condition clinical, biological, genetical as well as therapeutic plans.
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一例罕见的先天性纤维蛋白原血症
先天性纤维蛋白原血症的特点是纤维蛋白原合成减少或缺乏。这是一种罕见的常染色体隐性遗传病,临床表现不一。生物学诊断包括存在或不存在纤维原伴血液不凝固性。这种疾病的覆盖范围基于预防性治疗和基于新鲜冷冻血浆或纤维蛋白原浓缩物的替代治疗。通过这个病例,我们回顾了这些罕见疾病的临床、生物学、遗传学以及治疗计划的各个方面。
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