Advances in the diagnosis and treatment of Alagille syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 1188-1192, 2014.
Article
in Zh
| WPRIM
| ID: wpr-289505
Responsible library:
WPRO
ABSTRACT
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is an autosomal dominant disease with multisystem involvement. In this disease, the Notch signalling pathway is impaired due to mutation in JAG1 (ALGS type 1) or NOTCH2 (ALGS type 2) gene, affecting multiple organs or systems such as liver, heart, eyes, vertebrate and face. The main clinical features of ALGS include chronic cholestasis, congenital heart disease, mild vertebral segmentation abnormalities, characteristic face, postcorneal embryotoxon and poor kidney development. This article reviews the recent advances in the pathogenesis, clinical presentations, diagnosis and treatment of this syndrome.
Full text:
1
Database:
WPRIM
Main subject:
Therapeutics
/
Alagille Syndrome
/
Diagnosis
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2014
Document type:
Article