Pediatric Genetic Cholestatic Liver Disease Overview

The purpose of this overview is to increase the awareness of clinicians regarding pediatric genetic cholestatic liver diseases, including their clinical characteristics and recommended approaches to diagnosis, management, and genetic counseling. The following are the goals of this overview.

Goal 1: Briefly describe the common clinical characteristics of inherited cholestatic liver diseases in which cholestasis is a primary manifestation of the underlying causative pathology. Note: Disorders in which cholestasis is a secondary manifestation of the underlying causative pathology are outside the scope of this chapter.

Goal 2: Review the genetic causes of primary cholestatic liver disease.

Goal 3: Provide an evaluation strategy to identify the genetic cause of primary cholestatic liver disease in a proband (when possible).

Goal 4: Inform genetic counseling of family members of an individual with primary genetic cholestatic liver disease.

Goal 5: Review high-level dietary, medical, and surgical management of primary genetic cholestatic liver disease.