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Sequencing of ATP8B1, ABCB11 and ABCB4 revealed 135 genetic variants in 374 unrelated patients with suspected intrahepatic cholestasis

C Dröge, S Kluge, D Häussinger, R Kubitz, V Keitel · Zeitschrift für Gastroenterologie · 2015 · Heft 12

Dokument
1115336
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Jahr
2015
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Bibliografische Angaben

Zeitschrift
Zeitschrift für Gastroenterologie
Autor:innen
C Dröge, S Kluge, D Häussinger, R Kubitz, V Keitel
Ausgabe
Heft 12 / 2015
Seiten
–
Erschienen: 2015-12-14 00:00:00
ISSN
0044-2771
DOI
10.1055/s-0035-1568047

Zusammenfassung

ATP8B1, ABCB11, and ABCB4 encode the aminophospholipidflippase familial intrahepatic cholestasis 1 (FIC1), the bile salt export pump (BSEP), and the phospholipidfloppase multidrug resistance protein 3 (MDR3), respectively, that play central roles in bile formation. Mutations in these transporters are associated with cholestatic liver diseases of varying severity ranging from milder forms like intrahepatic cholestasis of pregnancy (ICP), benign recurrent intrahepatic cholestasis (BRIC) or low phospholipid-associated cholelithiasis (LPAC) to progressive familial intrahepatic cholestasis (PFIC). At present, gene se…

Schlagworte

Cholestasis Cholelithiasis Population Diagnosis Blood Zeitschrift für Gastroenterologie