Oral

Introduction: 
Alagille syndrome is an autosomal dominant disorder that affectsvariousorgans.  

Objectives: 
Determining the prevalence of clinical and genetic characteristics of children with Alagille syndrome in Children's hospital No1.

Subjects and methods: 
Patients diagnosedwith Alagille syndrome and treated at Children's hospital 1 from February 2015 to December 2018. Descriptive case-seriesdesign. Data entry usingEpidata 3.1 software. Data analysis using Stata 13.

Results:
Thirty-two children diagnosed with Alagille syndrome were studied. The proportion of hepatic, facial, spinal, cardiac and ocular abnormality were 96.9%; 87.5%; 78.1%; 75%; 59.4%, respectively. The levels of cholesterol, ALP, Triglyceride, AST, ALT, total bilirubin, GGT, direct bilirubin were higher than the normal thresholds. JAG1gene mutation was detected in 75% of our patients. The rate of nonsense mutations was 33%, missense mutation 29%, frame-shift 21%, splicing 13%, and microdeletion 4%.  

Conclusions:
This is the first study on Alagille syndrome implementing genetic analysis in Vietnam. We express our sincere need to continue research with a larger sample size to discover the genotype-phenotype correlation as well as specific factors that can relate to the prognosis of liver disease.