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Alagille Disorder in Individuals with Cholestatic Liver Conditions: Clinical Characteristics


Alice Swan

Cholestatic liver conditions encompass a group of disorders characterized by impaired bile flow, leading to a build-up of bile acids and other substances in the liver. Among these conditions, Alagille Syndrome (ALGS) stands out as a rare genetic disorder that affects various organ systems, with the liver being a central target. ALGS, also known as Alagille-Watson Syndrome or arteriohepatic dysplasia, was first described by Dr. Daniel Alagille in 1969. It is an autosomal dominant disorder caused by mutations in the JAG1 or NOTCH2 genes, affecting multiple organs including the liver, heart, skeleton, and eyes. This paper delves into the clinical characteristics of Alagille Disorder in individuals with cholestatic liver conditions, shedding light on its presentation, diagnosis, and potential therapeutic strategies.

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