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Ann Pediatr Endocrinol Metab > Accepted Articles
DOI: https://doi.org/10.6065/apem.2142042.021    [Accepted] Published online October 18, 2021.
Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity
Minji Im1, Ari Song2, Jiyeon Kim3, Min-Sun Kim3, Sae-Mi Lee4,5, Mi Jin Kim3, Sung Yoon Cho3  , Dong-Kyu Jin3
1Department of Pediatrics, Sungae General Hospital, Seoul, Korea
2Department of Pediatrics, Mediplex Sejong Hospital, Incheon, Korea
3Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
4GC Genome, GCLabs, Yongin, Korea
5Department of Laboratory Medicine, Kangwon National University School of Medicine, Chuncheon, Korea
Address for correspondence:  Sung Yoon Cho
Email: nadri1217@naver.com
Received: February 26, 2021   Revised: May 26, 2021   Accepted: June 22, 2021
Abstract
Wilson disease (WD) is a relatively common genetic hepatic disease in children that is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by the mutation of ATP7B that is potentially fatal if diagnosed late or untreated owing to degenerative aspects in the brain. In the early phase of WD, its initial presentation may include a mild hepatic involvement. WD may be overlooked as a cause of liver disease due to severe obesity, but should not be excluded from the differential diagnosis. We report a case of WD with severe obesity and fatty liver diagnosed in the early phase by targeted gene panel sequencing. We reviewed the endocrine problems associated with WD. Early suspicion of WD is important to improve prognosis.
Keywords: Obesity; Non-alcoholic Fatty Liver Disease; Hepatolenticular Degeneration
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