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CLINICAL AND GENETIC CHARACTERISTICS OF CHILDREN WITH ALAGILLE SYNDROME IN NATIONAL CHILDREN’S HOSPITAL
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Abstract
Alagille syndrome is an autosomal dominant disorder that effects various organs. Objects: the study aims to describe clinical, paraclinical characteristics and genetic mutations in children with Alagille syndrome. Method: the study describes a series of 55 cases of children with Alagille syndrome monitored and treated at the National Children’s Hospital from January 1, 2018 to September 30, 2024. Male/female ratio is 1.3. The median age of diagnosis is 3 months, the earliest is 1 month, the latest is 123 months. The rate of abnormalities of cardiac, hepatic, facial, ocular, spine and kidneys are 94.5%, 90.9%, 83.6%, 25.6%, 21.3%, 12.7% respectively. Children show signs of cholestasis with total, direct bilirubin, GOT, GPT, ALP, GGT all increased above the normal threshold. The JAG1 gene mutation rate is 75.7%, NOTCH2 is 8.1%. Conclusions: We express our sincere need to continue research a larger sample size to discover the genotype –phenotype correlation.
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Keywords
Alagille syndrome, cholestatic jaundice, JAG1, NOTCH2
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