Molecular basis of cholestatic diseases of surgical interest.
Cholestasis constitutes one of the most common and severe manifestations of acquired or inherited liver disease. When manifest in early infancy, it is often life-threatening and usually requires surgical management. In many cases, liver transplantation is the only effective therapy. Extensive knowledge about the molecular mechanisms underlying several pediatric cholestatic disorders has been gained in recent years from studies in both experimental models and clinical forms. In this review, we focus on recent contributions to the knowledge of molecular basis of main pediatric cholestatic disorders, such as biliary atresia, Alagille syndrome, and familial intrahepatic cholestasis. For some of them, putative targets of therapeutic interest, such as interferon-gamma and Farnesoid X receptor, have been proposed.
Alvarez
Luis
L
Research Unit, La Paz Children's University Hospital, Madrid, Spain. luisalvarez.hulp@salud.madrid.org
Jara
Paloma
P
Hierro
Loreto
L
Sánchez-Sabaté
Elena
E
Martínez-Fernández
Pilar
P
López-Santamaría
Manuel
M
D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics; D016738:Alagille Syndrome / Q000235:genetics*; D001656:Biliary Atresia / Q000175:diagnosis / Q000209:etiology* / Q000276:immunology*; D002135:Calcium-Binding Proteins / Q000235:genetics; D002648:Child; D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D007371:Interferon-gamma / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics; D051880:Receptors, Notch / Q000235:genetics; D000072099:Serrate-Jagged Proteins
C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D051880:Receptors, Notch; D000072099:Serrate-Jagged Proteins; D007371:Interferon-gamma; D000251:Adenosine Triphosphatases; C111067:ATP8B1 protein, human