Resumo:
Alagille syndrome is a genetic disorder with autosomal dominant
inheritance, characterized by chronic cholestasis associated with multisystem
involvement and marked clinical and evolutionary heterogeneity in the pediatric
population.Objective: To describe the clinical, laboratory, histological, genetic,
therapeutic profile and outcomes of children and adolescents diagnosed with Alagille
syndrome followed at a tertiary pediatric gastroenterology and hepatology center in
Bahia, Brazil. Methods: This was a retrospective observational case series including
patients aged 0 to 18 years with a clinical, histological and/or genetic diagnosis of Alagille
syndrome. Demographic data, hepatic and extrahepatic clinical manifestations, laboratory
findings at diagnosis and after approximately 12 months of follow-up, histological
features, genetic testing results, treatments and clinical outcomes were analyzed. Results:
Eleven patients were included, with a slight predominance of females. Persistent neonatal
cholestasis and jaundice were present in all cases. Pruritus was observed in 63.6% of
patients, with severe or intractable forms in some, frequently associated with
dyslipidemia and xanthomas. Congenital heart disease was identified in 72.7% of
individuals. Skeletal and ophthalmologic abnormalities, such as butterfly vertebrae and
posterior embryotoxon, were also frequent findings. Liver biopsy revealed heterogeneous
patterns, including ductopenia, ductular proliferation and cholestasis without ductopenia.
Genetic testing identified variants in the JAG1 gene in a subset of patients. Discussion:
Clinical management was mainly based on ursodeoxycholic acid and fat-soluble vitamin
supplementation, with partial and heterogeneous laboratory response after approximately
one year of follow-up. Conclusion: A variable clinical course was observed, with
frequent dissociation between biochemical response and symptom control. Additionally,
45.5% of patients progressed to liver transplantation, highlighting the severity and
unpredictable nature of Alagille syndrome.
