Modern approaches to the management of children with Alagille syndrome

Alagille syndrome is a disease with a predominantly autosomal dominant type of inheritance, characterized by multisystem damage caused by mutations in the JAG1 and NOTCH2 genes. The most common manifestations of this syndrome are intrahepatic cholestasis due to underdevelopment of the bile ducts, heart defects, maxillofacial dysmorphism, vertebral pathology — radiographically manifested as “butterfly vertebrae”, ophthalmological disorders, vascular anomalies and kidney pathology. In addition to the above, a violation of neuropsychic and physical development is significant. The use of high-tech diagnostic methods in the observation of such children allows us to identify rare disorders that require equally close monitoring by doctors of a multidisciplinary team. The presented article is devoted to modern approaches to the management of children with Alagille syndrome, emphasizing variability of clinical manifestations, diagnostic features and new targeted drugs for the treatment of patients with this disease.