Clinical manifestations of liver in congenital disorders of glycosylation
10.3760/cma.j.issn.1673-4408.2021.05.009
- VernacularTitle:先天性糖基化障碍疾病累及肝脏的临床表现
- Author:
Yuanyuan WANG
;
Yongmei ZENG
;
Shaoming ZHOU
;
Guoqing DONG
- From:
International Journal of Pediatrics
2021;48(5):323-326
- CountryChina
- Language:Chinese
-
Abstract:
Congenital disorders of glycosylation(CDG)are caused by defects in the synthesis of glycans and their binding to proteins and lipids.Up to now, over 100 types of CDG have been identified.This disease can cause functional damage to multiple organs including liver, kidney and heart.The CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG.Their clinical manifestations include enlarged liver, elevated transaminase, cholestasis, liver fibrosis, liver failure, abnormal ceruloplasmin, and copper accumulation.Their pathological manifestations include steatosis, fibrosis, liver cirrhosis, cholestasis, and abnormal bile duct.This review mainly describes the types of CDG and their pathogenesis, clinical manifestations and liver involvement to provide a perspective for the diagnosis of CDG with liver manifestations.
