CAJ | 학술논문

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.
목적 탐토유전성섬유단백원결핍증적림상특점,이제고림상의사대해병적인식.방법 회고성분석보도1례성인유전성섬유단백원결핍증림상진료경과,병대상관문헌진행복습.결과 결합환자급기제、기자혈응상관검사,진단위유전성섬유단백원결핍증,여이랭침정수주후순리수술,복습문헌해병다우성년전출현출혈표현이진단.결론 유전성섬유단백원결핍증교소견,다우영유인급인동출현정도불동적출혈표현,해병적진단응강조상세적가족유전사조사급출응혈실험실검사.활동성출혈시혹외과수술전응여이체대치료.
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.