The invention concerns methods of screening for a hepatic syndrome
occurring in the young adult and associating cholesterol biliary
microlithiasis, intrahepatic cholestasis and several mutations of the
MDR3 gene. The invention is also directed to methods for the treatment of
said syndrome. The hepatic syndrome screening methods comprise detecting,
from a nucleic acid sample extracted from peripheral blood mononucleate
cells, heterozygous mutations of the MDR3 gene and/or homozygous
mutations of the MDR3 gene that do not eliminate the expression of the
protein expressed by the MDR3 gene, which has phosphatidylcholine carrier
activity, in adult subjects associating cholesterol biliary
microlithiasis and intrahepatic cholestasis.