1例FGG基因突变致纤维蛋白原贮积症患儿临床及基因分析

Clinical and genetic analysis of a child with fibrinogen storage disease caused by FGG gene mutation:a case report

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。

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.