Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.

Adenosine Triphosphatases / deficiency Adolescent Adult Antigens, CD / metabolism Antigens, Differentiation, Myelomonocytic / metabolism Child Child, Preschool Cholestasis / diagnosis Female Humans Interleukin-10 / pharmacology Lipopolysaccharide Receptors / metabolism Liver / metabolism Macrophages / metabolism Male Mutagenesis / genetics Mutation Receptors, Cell Surface / metabolism Young Adult

Journal

Hepatology communications

ISSN: 2471-254X

Titre abrégé: Hepatol Commun

Pays: United States

ID NLM: 101695860

Informations de publication

Date de publication:
01 2021

Historique:

received: 30 04 2020

revised: 11 07 2020

accepted: 20 08 2020

entrez: 13 1 2021

pubmed: 14 1 2021

medline: 14 1 2021

Statut: epublish

Résumé

Adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1) deficiency, an ultrarare autosomal recessive liver disease, includes severe and mild clinical forms, referred to as progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis type 1 (BRIC1), respectively. There is currently no practical method for determining PFIC1 or BRIC1 at an early disease course phase. Herein, we assessed the feasibility of developing a diagnostic method for PFIC1 and BRIC1. A nationwide Japanese survey conducted since 2015 identified 25 patients with cholestasis with

Identifiants

DOI: 10.1002/hep4.1605 PMID: 33437900 PMC: PMC7789840

pubmed: 33437900

doi: 10.1002/hep4.1605

pii: 02009842-202101000-00006

pmc: PMC7789840

doi:

Substances chimiques

Antigens, CD 0

Antigens, Differentiation, Myelomonocytic 0

CD163 antigen 0

Lipopolysaccharide Receptors 0

Receptors, Cell Surface 0

Interleukin-10 130068-27-8

Adenosine Triphosphatases EC 3.6.1.-

ATP8B1 protein, human EC 3.6.1.3.

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Pagination

52-62

Informations de copyright

Références

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