摘要
肝纤维蛋白原贮积症(hepatic fibrinogen storage disease,HFSD)是一种罕见的常染色体显性遗传性疾病,属于内质网贮积病的范畴。其特征为异常纤维蛋白原滞留在肝细胞内质网中,从而导致不同程度的慢性肝病,严重可致肝硬化,同时导致血浆纤维蛋白原的缺乏,与编码纤维蛋白原相关肽链的基因突变相关。该文将从纤维蛋白原的分子结构、基因以及肝纤维蛋白原贮积症的临床表现、组织病理、分子遗传及治疗等方面进行综述。
Hepatic fibrinogen storage disease(HFSD)is a rare autosomal dominant disease,belonging to the group of endoplasmic reticulum(ER)storage diseases.It is characterized by the accumulation of abnormal fibrinogen in the ER of hepatocytes,leading to different degrees of chronic liver disease,severe cirrhosis,and a lack of plasma fibrinogen,which is related to mutations in genes encoding fibrinogen-related peptides.This article will review the molecular structure and genes of fibrinogen and the clinical manifestations,histopathology,molecular genetics and treatment of HFSD.
作者
张颖(综述)
林谦
金玉(审校)
Zhang Ying;Lin Qian;Jin Yu(Department of Gastroenterology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)
出处
《国际儿科学杂志》
2022年第7期448-452,共5页
International Journal of Pediatrics
