Progress in hepatic fibrinogen storage disease / 国际儿科学杂志

ABSTRACT

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.