Genetic cholestatic liver diseases : The example of progressive familial intra- hepatic cholestasis and related disorders

One of the main features of pediatric hepatology is the importance of genetic disorders. Consequently, the development of new technologies for genomics and pro- teomics research should have an important impact on pediatric hepatology. These technological advances have already allowed the understanding of the role of genetic factors in the pathogenesis of some pediatric cholestatic liver diseases (1, table). It can be expected that it will also facilitate the development of novel treatments (e. g., gene, cell, and pharmacogenetics therapies) and molecu- lar prenatal diagnosis. Characterization of genotype/ phenotype correlations will further increase our ability to understand cellular and molecular disease relation- ships, to develop treatment strategies, and to improve counseling of families. In addition, it is very likely that many of the genetic discoveries that initially focus on pediatric liver disorders will have more widespread application to adult hepatobiliary physiology and dis- eases. One of the major advances in pediatric hepatology over the past 5 years has been the genetic and molecular characterization of the progressive familial intrahepatic cholestasis disorders.