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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2019
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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 |
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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 |
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