Trafficking and transporter disorders in pediatric cholestasis.
This article describes the uses of immunostaining in the diagnosis of cholestasis. To immunostain for bile salt export pump (BSEP) and multidrug resistance protein 3 in severe hepatobiliary disease manifest early in life can rapidly identify whether sequencing of ABCB11 or ABCB4 is likely to yield a genetic diagnosis. To immunostain for canalicular ectoenzymes as well as transporters, with transmission electron microscopy, can suggest whether sequencing of ATP8B1 is likely to yield a genetic diagnosis. Demonstrating BSEP expression can direct attention to bile acid synthesis disorders. Immunostaining for multidrug resistance-associated protein 2 serves principally as a control for adequacy of processing.
Institute of Liver Studies, King's College Hospital, Denmark Hill, London SE5 9RS, UK. alex.knisely@kcl.ac.uk
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AS
Knisely
Paul
P
Gissen
D018435:ATP Binding Cassette Transporter, Subfamily B / Q000032:analysis*; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000032:analysis*; D000818:Animals; D001648:Bile Canaliculi / Q000378:metabolism; D002648:Child; D002779:Cholestasis / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans
C093491:ABCB11 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; C095122:multidrug resistance protein 3