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...
Autores principales: | , , , , |
---|---|
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 |