Abstract
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.
Keywords:
Bile acids; Cholestasis; Genetics; PFIC; Pediatrics.
Copyright © 2018 Elsevier Inc. All rights reserved.
MeSH terms
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ATP Binding Cassette Transporter, Subfamily B / deficiency
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ATP Binding Cassette Transporter, Subfamily B / genetics
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ATP Binding Cassette Transporter, Subfamily B, Member 11 / deficiency
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ATP Binding Cassette Transporter, Subfamily B, Member 11 / genetics
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Adenosine Triphosphatases / genetics
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Bile Acids and Salts / metabolism*
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Cholestasis, Intrahepatic / diagnosis
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Cholestasis, Intrahepatic / genetics*
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Cholestasis, Intrahepatic / metabolism*
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Homeostasis
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Humans
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Lipid Metabolism* / genetics
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Myosin Heavy Chains / deficiency
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Myosin Heavy Chains / genetics
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Myosin Type V / deficiency
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Myosin Type V / genetics
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Receptors, Cytoplasmic and Nuclear / deficiency
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Receptors, Cytoplasmic and Nuclear / genetics
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Zonula Occludens-2 Protein / deficiency
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Zonula Occludens-2 Protein / genetics
Substances
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ABCB11 protein, human
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ATP Binding Cassette Transporter, Subfamily B
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ATP Binding Cassette Transporter, Subfamily B, Member 11
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Bile Acids and Salts
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MYO5B protein, human
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Receptors, Cytoplasmic and Nuclear
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TJP2 protein, human
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Zonula Occludens-2 Protein
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farnesoid X-activated receptor
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multidrug resistance protein 3
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Adenosine Triphosphatases
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Myosin Type V
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ATP8B1 protein, human
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Myosin Heavy Chains
Supplementary concepts
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Cholestasis, progressive familial intrahepatic 1
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Cholestasis, progressive familial intrahepatic 3