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摘要:纤维蛋白原贮积症是一种罕见的常染色体显性遗传病,本文报道1例因肝功能异
常、纤维蛋白原水平降低诊断纤维蛋白原贮积症病例,肝组织活检、肝病相关基因检
测及随访资料完整,通过对该病例诊治及随访过程的分析,希望提高临床医师对该病
的认识,做到早诊断、早治疗。
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Abstract: Fibrinogen storage disease is a rare autosomal dominant genetic disease. This paper reported
a case of diagnosed fibrinogen storage disease due to abnormal liver function and decreased fibrinogen
level, the data of liver biopsy, liver disease-related gene testing and the follow-up were complete.
Through the analysis of diagnosis, treatment and follow-up process of this case, we hope that clinicians
could improve the understanding of the disease and achieve early diagnosis and early treatment.
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