Early clinical, laboratory, and instrumental characteristics of Alagille syndrome

• Anna V. Degtyareva
• Alina A. Dokshukina
• Marina S. Gautier
• Elena A. Filippova
• Tumanova Elena L.
• Ekaterina Yu. Zakharova
• Marina B. Albegova
• Svetlana I. Zhdanova
• Anna A. Puchkova
• Medan Kh. Isaeva
• Jekaterina Shubina
• Elena A. Gusarova

Abstract

Alagille syndrome (AS) – ​arteriohepatic dysplasia, hypoplasia of the interlobular bile ducts (OMIM 118450) is a genetic multisystem disease with an autosomal dominant inheritance and a wide range of clinical variability: from life-threatening conditions caused by critical heart defects and severe liver failure to subclinical mild forms with minor changes in the level of liver enzymes, which significantly complicates the differential diagnosis. This degree of variability can be observed even within the same family with the same confirmed genetic variant. In 98% of cases, the disease is caused by mutations in the JAG1 gene, the remaining 2% is caused by mutations in the NOTCH2 gene. The article presents an analysis of clinical, laboratory, and instrumental changes during the first 3 months of life in children with AS.

Keywords:Alagille syndrome; cholestasis; neonatal cholestasis; monogenic diseases; biliary atresia; whole exome sequencing

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