Abstract
We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2.
MeSH terms
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ATP Binding Cassette Transporter, Subfamily B, Member 11
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ATP-Binding Cassette Transporters / genetics*
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Adolescent
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Cholestasis, Intrahepatic / genetics*
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Cholestasis, Intrahepatic / metabolism
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DNA / genetics*
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Disease Progression
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Humans
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Male
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Mutation*
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Phenotype
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Polymerase Chain Reaction
Substances
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ABCB11 protein, human
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ATP Binding Cassette Transporter, Subfamily B, Member 11
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ATP-Binding Cassette Transporters
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DNA