Cargando…

Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation

Progressive familial intrahepatic cholestasis (PFIC) describes a heterogeneous group of autosomal-recessive childhood liver disorders in which cholestasis of hepatocellular origin frequently manifests during infancy or the first year of life and progresses to liver failure. We report a case of a fiv...

Descripción completa

Detalles Bibliográficos
Autores principales: Alasmari, Badriah G, Rayees, Syed, Alomari, Mohammed, Elzubair, Lina, Hamid, Yassin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834668/
https://www.ncbi.nlm.nih.gov/pubmed/36644077
http://dx.doi.org/10.7759/cureus.32455
_version_ 1784868510908809216
author Alasmari, Badriah G
Rayees, Syed
Alomari, Mohammed
Elzubair, Lina
Hamid, Yassin
author_facet Alasmari, Badriah G
Rayees, Syed
Alomari, Mohammed
Elzubair, Lina
Hamid, Yassin
author_sort Alasmari, Badriah G
collection PubMed
description Progressive familial intrahepatic cholestasis (PFIC) describes a heterogeneous group of autosomal-recessive childhood liver disorders in which cholestasis of hepatocellular origin frequently manifests during infancy or the first year of life and progresses to liver failure. We report a case of a five-year-old boy with homozygous pathogenic variant c.2906G>A in the ATP binding cassette subfamily B member 4 (ABCB4) gene presented with hepatosplenomegaly and cytopenia without a history of jaundice or itching; he had a history of Epstein-Barr virus infection and family history of liver disease. The patient was started on ursodeoxycholic acid and fat-soluble vitamins and referred to a liver transplant center.
format Online
Article
Text
id pubmed-9834668
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-98346682023-01-12 Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation Alasmari, Badriah G Rayees, Syed Alomari, Mohammed Elzubair, Lina Hamid, Yassin Cureus Genetics Progressive familial intrahepatic cholestasis (PFIC) describes a heterogeneous group of autosomal-recessive childhood liver disorders in which cholestasis of hepatocellular origin frequently manifests during infancy or the first year of life and progresses to liver failure. We report a case of a five-year-old boy with homozygous pathogenic variant c.2906G>A in the ATP binding cassette subfamily B member 4 (ABCB4) gene presented with hepatosplenomegaly and cytopenia without a history of jaundice or itching; he had a history of Epstein-Barr virus infection and family history of liver disease. The patient was started on ursodeoxycholic acid and fat-soluble vitamins and referred to a liver transplant center. Cureus 2022-12-12 /pmc/articles/PMC9834668/ /pubmed/36644077 http://dx.doi.org/10.7759/cureus.32455 Text en Copyright © 2022, Alasmari et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Alasmari, Badriah G
Rayees, Syed
Alomari, Mohammed
Elzubair, Lina
Hamid, Yassin
Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation
title Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation
title_full Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation
title_fullStr Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation
title_full_unstemmed Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation
title_short Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation
title_sort progressive familial intrahepatic cholestasis type 3 homozygous pathogenic variant c.2906g>a in the atp binding cassette subfamily b member 4 (abcb4) gene: a case report of an unusual presentation
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834668/
https://www.ncbi.nlm.nih.gov/pubmed/36644077
http://dx.doi.org/10.7759/cureus.32455
work_keys_str_mv AT alasmaribadriahg progressivefamilialintrahepaticcholestasistype3homozygouspathogenicvariantc2906gaintheatpbindingcassettesubfamilybmember4abcb4geneacasereportofanunusualpresentation
AT rayeessyed progressivefamilialintrahepaticcholestasistype3homozygouspathogenicvariantc2906gaintheatpbindingcassettesubfamilybmember4abcb4geneacasereportofanunusualpresentation
AT alomarimohammed progressivefamilialintrahepaticcholestasistype3homozygouspathogenicvariantc2906gaintheatpbindingcassettesubfamilybmember4abcb4geneacasereportofanunusualpresentation
AT elzubairlina progressivefamilialintrahepaticcholestasistype3homozygouspathogenicvariantc2906gaintheatpbindingcassettesubfamilybmember4abcb4geneacasereportofanunusualpresentation
AT hamidyassin progressivefamilialintrahepaticcholestasistype3homozygouspathogenicvariantc2906gaintheatpbindingcassettesubfamilybmember4abcb4geneacasereportofanunusualpresentation