Cargando…

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound...

Descripción completa

Detalles Bibliográficos
Autores principales: Rhee, Eun Sang, Kim, Yu Bin, Lee, Sunghee, Oh, Seak Hee, Lee, Beom Hee, Kim, Kyung Mo, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751104/
https://www.ncbi.nlm.nih.gov/pubmed/31555573
http://dx.doi.org/10.5223/pghn.2019.22.5.479
_version_ 1783452555461787648
author Rhee, Eun Sang
Kim, Yu Bin
Lee, Sunghee
Oh, Seak Hee
Lee, Beom Hee
Kim, Kyung Mo
Yoo, Han-Wook
author_facet Rhee, Eun Sang
Kim, Yu Bin
Lee, Sunghee
Oh, Seak Hee
Lee, Beom Hee
Kim, Kyung Mo
Yoo, Han-Wook
author_sort Rhee, Eun Sang
collection PubMed
description Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum γ-glutamyl transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.
format Online
Article
Text
id pubmed-6751104
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
record_format MEDLINE/PubMed
spelling pubmed-67511042019-09-25 Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1 Rhee, Eun Sang Kim, Yu Bin Lee, Sunghee Oh, Seak Hee Lee, Beom Hee Kim, Kyung Mo Yoo, Han-Wook Pediatr Gastroenterol Hepatol Nutr Case Report Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum γ-glutamyl transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis. The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2019-09 2019-09-11 /pmc/articles/PMC6751104/ /pubmed/31555573 http://dx.doi.org/10.5223/pghn.2019.22.5.479 Text en Copyright © 2019 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition https://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Rhee, Eun Sang
Kim, Yu Bin
Lee, Sunghee
Oh, Seak Hee
Lee, Beom Hee
Kim, Kyung Mo
Yoo, Han-Wook
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1
title Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1
title_full Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1
title_fullStr Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1
title_full_unstemmed Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1
title_short Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1
title_sort novel atp8b1 gene mutations in a child with progressive familial intrahepatic cholestasis type 1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751104/
https://www.ncbi.nlm.nih.gov/pubmed/31555573
http://dx.doi.org/10.5223/pghn.2019.22.5.479
work_keys_str_mv AT rheeeunsang novelatp8b1genemutationsinachildwithprogressivefamilialintrahepaticcholestasistype1
AT kimyubin novelatp8b1genemutationsinachildwithprogressivefamilialintrahepaticcholestasistype1
AT leesunghee novelatp8b1genemutationsinachildwithprogressivefamilialintrahepaticcholestasistype1
AT ohseakhee novelatp8b1genemutationsinachildwithprogressivefamilialintrahepaticcholestasistype1
AT leebeomhee novelatp8b1genemutationsinachildwithprogressivefamilialintrahepaticcholestasistype1
AT kimkyungmo novelatp8b1genemutationsinachildwithprogressivefamilialintrahepaticcholestasistype1
AT yoohanwook novelatp8b1genemutationsinachildwithprogressivefamilialintrahepaticcholestasistype1