目的 探讨遗传性纤维蛋白原缺乏症的临床特点,以提高临床医师对该病的认识.方法 回顾性分析报道1例成人遗传性纤维蛋白原缺乏症临床诊疗经过,并对相关文献进行复习.结果 结合患者及其弟、其子血凝相关检查,诊断为遗传性纤维蛋白原缺乏症,予以冷沉淀输注后顺利手术,复习文献该病多于成年前出现出血表现而诊断.结论 遗传性纤维蛋白原缺乏症较少见,多于婴幼儿及儿童出现程度不同的出血表现,该病的诊断应强调详细的家族遗传史调查及出凝血实验室检查.活动性出血时或外科手术前应予以替代治疗.%Objective To investigate the clinical features of hereditary fibrinogen deficiency and to improve the cognition of clinicians on the disease.Methods The treatment of an adult case of hereditary fibrinogen deficiency was retrospectively analyzed and reported and the related domestic literatures were reviewed.Results In terms of the related examinations of the blood coagulative function of the patient and his brother and son,Hereditary fibrinogen deficiency was diagnosed.Artificated lens was implanted smoothly after infusing the cryoprecipitate.Literature review showed that the disease was diagnosed when bleeding occured in adult.Conclusions Hereditary fibrinogen deficiency is rare and mainly occurs in infants and children having vary degrees of bleeding manifestations.The family history investigation and the detailed examination of the coagulation should be emphasized to diagnose this disease.When actively bleeding,replacement therapy should be pre-operativey taken.
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