DETECTION OF A NEW HEPATIC SYNDROME AND ITS APPLICATIONS

摘要

Screening of a hepatic syndrome occurring in the young adult and associating a cholesterol biliary microlithiasis, an intrahepatic cholestasis and one or more mutations of the MDR3 gene and treatment of said syndrome.This method of screening for a hepatic syndrome includes at least the detecting, from a sample of nucleic acid extracted from peripheral blood mononuclear cells, at least one heterozygous mutation of the MDR3 gene and / or a homozygous mutation that does not abolish the expression of the protein expressed by said gene, with phosphatidylcholine transporter activity, in adult subjects associating cholesterol biliary microlithiasis and intrahepatic cholestasis.