Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch

Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we report on a patient with nasobiliary drainage...

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Detalles Bibliográficos
Autores principales: Holz, Robert, Kremer, Andreas E., Lütjohann, Dieter, Wasmuth, Hermann E., Lammert, Frank, Krawczyk, Marcin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796322/
https://www.ncbi.nlm.nih.gov/pubmed/29404523
http://dx.doi.org/10.1002/hep4.1144
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author Holz, Robert
Kremer, Andreas E.
Lütjohann, Dieter
Wasmuth, Hermann E.
Lammert, Frank
Krawczyk, Marcin
author_facet Holz, Robert
Kremer, Andreas E.
Lütjohann, Dieter
Wasmuth, Hermann E.
Lammert, Frank
Krawczyk, Marcin
author_sort Holz, Robert
collection PubMed
description Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we report on a patient with nasobiliary drainage‐refractory BRIC type 2 who improved under plasma separation and anion absorption therapy. We also suggest that nasobiliary drainage might be an ineffective approach in carriers of severe loss‐of‐function mutations of the bile salt export pump ABCB11. (Hepatology Communications 2018;2:152–154)
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spelling pubmed-57963222018-02-05 Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch Holz, Robert Kremer, Andreas E. Lütjohann, Dieter Wasmuth, Hermann E. Lammert, Frank Krawczyk, Marcin Hepatol Commun Brief Reports Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we report on a patient with nasobiliary drainage‐refractory BRIC type 2 who improved under plasma separation and anion absorption therapy. We also suggest that nasobiliary drainage might be an ineffective approach in carriers of severe loss‐of‐function mutations of the bile salt export pump ABCB11. (Hepatology Communications 2018;2:152–154) John Wiley and Sons Inc. 2018-01-10 /pmc/articles/PMC5796322/ /pubmed/29404523 http://dx.doi.org/10.1002/hep4.1144 Text en © 2018 The Authors. Hepatology Communications published by Wiley Periodicals, Inc., on behalf of the American Association for the Study of Liver Diseases. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Reports
Holz, Robert
Kremer, Andreas E.
Lütjohann, Dieter
Wasmuth, Hermann E.
Lammert, Frank
Krawczyk, Marcin
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
title Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
title_full Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
title_fullStr Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
title_full_unstemmed Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
title_short Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
title_sort can genetic testing guide the therapy of cholestatic pruritus? a case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
topic Brief Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796322/
https://www.ncbi.nlm.nih.gov/pubmed/29404523
http://dx.doi.org/10.1002/hep4.1144
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