A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282delATC (p. I94del)) definitively diagnosed using t...

Descripción completa

Detalles Bibliográficos
Autores principales: Kido, Jun, Mitsubuchi, Hiroshi, Watanabe, Takehisa, Sugawara, Keishin, Sasai, Hideo, Fukao, Toshiyuki, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8651689/
https://www.ncbi.nlm.nih.gov/pubmed/34876562
http://dx.doi.org/10.1038/s41439-021-00172-8
_version_ 1784611452477243392
author Kido, Jun
Mitsubuchi, Hiroshi
Watanabe, Takehisa
Sugawara, Keishin
Sasai, Hideo
Fukao, Toshiyuki
Nakamura, Kimitoshi
author_facet Kido, Jun
Mitsubuchi, Hiroshi
Watanabe, Takehisa
Sugawara, Keishin
Sasai, Hideo
Fukao, Toshiyuki
Nakamura, Kimitoshi
author_sort Kido, Jun
collection PubMed
description Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282delATC (p. I94del)) definitively diagnosed using the GSD gene panel. She presented with hypoglycemia, hepatomegaly, and short stature and died of cirrhosis and recurrent multiple hepatocellular adenoma at the age of 69 years and 11 months.
format Online
Article
Text
id pubmed-8651689
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-86516892021-12-22 A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review Kido, Jun Mitsubuchi, Hiroshi Watanabe, Takehisa Sugawara, Keishin Sasai, Hideo Fukao, Toshiyuki Nakamura, Kimitoshi Hum Genome Var Data Report Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282delATC (p. I94del)) definitively diagnosed using the GSD gene panel. She presented with hypoglycemia, hepatomegaly, and short stature and died of cirrhosis and recurrent multiple hepatocellular adenoma at the age of 69 years and 11 months. Nature Publishing Group UK 2021-12-08 /pmc/articles/PMC8651689/ /pubmed/34876562 http://dx.doi.org/10.1038/s41439-021-00172-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Kido, Jun
Mitsubuchi, Hiroshi
Watanabe, Takehisa
Sugawara, Keishin
Sasai, Hideo
Fukao, Toshiyuki
Nakamura, Kimitoshi
A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
title A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
title_full A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
title_fullStr A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
title_full_unstemmed A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
title_short A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
title_sort female patient with gsd ixc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8651689/
https://www.ncbi.nlm.nih.gov/pubmed/34876562
http://dx.doi.org/10.1038/s41439-021-00172-8
work_keys_str_mv AT kidojun afemalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT mitsubuchihiroshi afemalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT watanabetakehisa afemalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT sugawarakeishin afemalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT sasaihideo afemalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT fukaotoshiyuki afemalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT nakamurakimitoshi afemalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT kidojun femalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT mitsubuchihiroshi femalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT watanabetakehisa femalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT sugawarakeishin femalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT sasaihideo femalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT fukaotoshiyuki femalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview
AT nakamurakimitoshi femalepatientwithgsdixcdevelopingmultipleandrecurrenthepatocellularcarcinomaacasereportandliteraturereview

Ejemplares similares