Progress in each system damage of Alagille syndrome
10.3760/cma.j.issn.1673-4408.2016.05.004
- VernacularTitle:Alagille综合征各系统损害的研究进展
- Author:
Meiling GAO
- Publication Type:Journal Article
- Keywords:
Alagille syndrom;
JAG1;
NOTCH2;
Clinical manifestation;
Pathogenesis;
Diagnosis
- From:
International Journal of Pediatrics
2016;43(5):360-364
- CountryChina
- Language:Chinese
-
Abstract:
Alagille syndrome (ALGS) is the most common cause of the phenotypic characteristics of chronic cholestasis disease.It is an infrequent multisystem autosomal dominant disorder that developmental abnormalities in several organs including the liver, heart, skeleton, eye and face, kidney, vasculature and skin.Alagille syndrome is caused by mutations in both a ligand(Jagged1 (JAG1)) and receptor(NOTCH2) that activate the Notch signaling pathway.The criteria of Alagille syndrome contains the presentation of 3/5 clinical features including anomalies of the cholestasis, heart defects, spinal deformity (butterfly vertebrae), eye abnormality (posterior embryotoxon) and prominent facial features(inverted triangular face) along with bile duct paucity on liver biopsy.In recent years, with the progress of molecular diagnostic techniques and etiology research for each system phenotype, ALGS has attracted more and more attention.This article reviews the clinical manifestations,pathogenesis and diagnosis of ALGS.
