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Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity
Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diag...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korean Society of Pediatric Endocrinology
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537669/ https://www.ncbi.nlm.nih.gov/pubmed/34670068 http://dx.doi.org/10.6065/apem.2142042.021 |
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author | Im, Minji Song, Ari Kim, Jiyeon Kim, Min-Sun Lee, Sae-Mi Kim, Mi Jin Cho, Sung Yoon Jin, Dong-Kyu |
author_facet | Im, Minji Song, Ari Kim, Jiyeon Kim, Min-Sun Lee, Sae-Mi Kim, Mi Jin Cho, Sung Yoon Jin, Dong-Kyu |
author_sort | Im, Minji |
collection | PubMed |
description | Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement. WD may be overlooked as a cause of liver disease due to severe obesity but should not be excluded from differential diagnosis. We report a case of WD with severe obesity and fatty liver diagnosed in the early phase by targeted gene panel sequencing and review the endocrine problems associated with WD. Early suspicion of WD is important for good prognosis. |
format | Online Article Text |
id | pubmed-9537669 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Korean Society of Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-95376692022-10-17 Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity Im, Minji Song, Ari Kim, Jiyeon Kim, Min-Sun Lee, Sae-Mi Kim, Mi Jin Cho, Sung Yoon Jin, Dong-Kyu Ann Pediatr Endocrinol Metab Case Report Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement. WD may be overlooked as a cause of liver disease due to severe obesity but should not be excluded from differential diagnosis. We report a case of WD with severe obesity and fatty liver diagnosed in the early phase by targeted gene panel sequencing and review the endocrine problems associated with WD. Early suspicion of WD is important for good prognosis. Korean Society of Pediatric Endocrinology 2022-09 2021-10-18 /pmc/articles/PMC9537669/ /pubmed/34670068 http://dx.doi.org/10.6065/apem.2142042.021 Text en © 2022 Annals of Pediatric Endocrinology & Metabolism 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 (http://creativecommons.org/licenses/by-nc/4.0/ (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 Im, Minji Song, Ari Kim, Jiyeon Kim, Min-Sun Lee, Sae-Mi Kim, Mi Jin Cho, Sung Yoon Jin, Dong-Kyu Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity |
title | Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity |
title_full | Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity |
title_fullStr | Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity |
title_full_unstemmed | Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity |
title_short | Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity |
title_sort | wilson disease diagnosed incidentally by targeted gene panel sequencing in a korean boy with severe obesity |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537669/ https://www.ncbi.nlm.nih.gov/pubmed/34670068 http://dx.doi.org/10.6065/apem.2142042.021 |
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