[MIM 237 450]

Very rare. Benign. Autosomal recessive transmission of biallelic mutations of 2 very close genes, SLCO1B1 and SLCO1B3, that code for polypeptides OATP1B1 and OATP1B3: these polypeptides serve as transporters for organic anions and thus participate in the elimination of toxic glucuronoconjugates.

Presentation:  chronic or recurrent moderate jaundice, with conjugated bilirubin (50-80%), due to a decreased secretion of bilirubin. Urinary coproporphyrin I level is 2 to 5 times greater than normal (differential diagnosis with Dubin-Johnson disease).

Anesthetic implications:

No special precautions. Avoid alcohol and hepatotoxic drugs.

References : 

-         Roter S, Jirsa M, Knisely AS, Schinkl A, Kmal S. 
GeneReviews website 1993-2103, University of Washington-Seattle.

Updated. Octobre 2018