Inherited disorders of bilirubin transport and conjugation: New insights into molecular mechanisms and consequences

184Citations
Citations of this article
205Readers
Mendeley users who have this article in their library.
Get full text

Abstract

Inherited disorders of bilirubin metabolism might reduce bilirubin uptake by hepatocytes, bilirubin conjugation, or secretion of bilirubin into bile. Reductions in uptake could increase levels of unconjugated or conjugated bilirubin (Rotor syndrome). Defects in bilirubin conjugation could increase levels of unconjugated bilirubin; the effects can be benign and frequent (Gilbert syndrome) or rare but severe, increasing the risk of bilirubin encephalopathy (Crigler-Najjar syndrome). Impairment of bilirubin secretion leads to accumulation of conjugated bilirubin (Dubin-Johnson syndrome). We review the genetic causes and pathophysiology of disorders of bilirubin transport and conjugation as well as clinical and therapeutic aspects. We also discuss the possible mechanisms by which hyperbilirubinemia protects against cardiovascular disease and the metabolic syndrome and the effects of specific genetic variants on drug metabolism and cancer development. © 2014 by the AGA Institute.

Cite

CITATION STYLE

APA

Erlinger, S., Arias, I. M., & Dhumeaux, D. (2014). Inherited disorders of bilirubin transport and conjugation: New insights into molecular mechanisms and consequences. Gastroenterology. W.B. Saunders. https://doi.org/10.1053/j.gastro.2014.03.047

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free