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Review

Pediatric Genetic Cholestatic Liver Disease Overview

Maria Amendola  1 , James E Squires  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Pediatric Genetic Cholestatic Liver Disease Overview

Maria Amendola et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the common clinical characteristics of inherited cholestatic liver diseases in which cholestasis is a primary manifestation of the underlying causative pathology;

  2. 2

    Review the genetic causes of primary cholestatic liver disease;

  3. 3

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

  4. 4

    Review high-level dietary, medical, and surgical management of primary genetic cholestatic liver disease;

  5. 5

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

Note: Disorders in which cholestasis is a secondary manifestation of the underlying causative pathology are outside the scope of this chapter.

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References

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