CLINICAL AND GENETIC CHARACTERISTICS OF CHILDREN WITH ALAGILLE SYNDROME IN CHILDREN’S HOSPITAL NO. 1
Introduction: Alagille syndrome is an autosomal dominant disorder that aff ects many various organs. Objectives: Determining the prevalence of clinical and genetic characteristics of children with Alagille syndrome in Children’s Hospital No.1.
Subjects and methods: Patients diagnosed with Alagille syndrome and treated at Children’s
Hospital No. 1 from February 2015 to December 2018. Descriptive case-series design.
Results: Thirty two children diagnosed with Alagille syndrome were studied. The proportions 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, and direct bilirubinwere higher than the normal thresholds. JAG1 gene mutation was detected in 75% of our patients. The rate of nonsense mutations was 33%, missensemutation 29%, frameshift 21%, splicing 13% andmicrodeletion 4%.
Conclusion: We express our sincere need to continue research with a larger sample size to
discover the genotype-phenotype correlation as well as specifi c factors that can relate to the
prognosis of liver disease.
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