Hereditäre Defekte hepatobiliärer Transportproteine
作者： J. Mwinyi , G.A. Kullak-Ublick
DOI: 10.1007/S11377-009-0345-8
关键词:
摘要: Eine gestorte Funktion hepatobiliarer Transportproteine kann zu schweren hereditaren cholestatischen Leberkrankheiten fuhren. Die progressive familiare intrahepatische Cholestase (PFIC) manifestiert sich im fruhen Kindesalter. Varianten des FIC1-Aminophospholipidtransporters (ATP8B1-Gen) verursachen sowohl die PFIC1 als auch benigne rekurrente vom Typ 1 (BRIC1). Ein Funktionsverlust der Gallensauren-Effluxpumpe BSEP (ABCB11) fuhrt PFIC2 oder BRIC2. haufige BSEP-Variante, V444A-Polymorphismus, wird haufig bei verschiedenen Arten von gefunden, u. a. medikamentos induzierten Leberschaden. Schlieslich Dysfunktion „multidrug resistance gene product 3“ (MDR3, ABCB4) PFIC3, mit niedrigen biliaren Phospholipiden und – aufgrund Gallengangsschadigungen hohen GGT-Konzentrationen Serum einhergeht. Alle drei Transportergene sind gewissen Formen intrahepatischen Schwangerschaftscholestase assoziiert. Behandlungsoptionen umfassen Gabe Ursodeoxycholsaure (UDCA) milderen Verlaufsformen bis hin zur Lebertransplantation padiatrischen Leberkrankheiten.
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