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...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Book |
| Published: |
Korean Society of Pediatric Endocrinology,
2022-09-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
MARC
| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_a7cb551c04b24bd08b38f19c71ec32b5 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Minji Im |e author |
| 700 | 1 | 0 | |a Ari Song |e author |
| 700 | 1 | 0 | |a Jiyeon Kim |e author |
| 700 | 1 | 0 | |a Min-Sun Kim |e author |
| 700 | 1 | 0 | |a Sae-Mi Lee |e author |
| 700 | 1 | 0 | |a Mi Jin Kim |e author |
| 700 | 1 | 0 | |a Sung Yoon Cho |e author |
| 700 | 1 | 0 | |a Dong-Kyu Jin |e author |
| 245 | 0 | 0 | |a Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity |
| 260 | |b Korean Society of Pediatric Endocrinology, |c 2022-09-01T00:00:00Z. | ||
| 500 | |a 2287-1012 | ||
| 500 | |a 2287-1292 | ||
| 500 | |a 10.6065/apem.2142042.021 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a obesity | ||
| 690 | |a nonalcoholic fatty liver disease | ||
| 690 | |a hepatolenticular degeneration | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 3, Pp 229-235 (2022) | |
| 787 | 0 | |n http://e-apem.org/upload/pdf/apem-2142042-021.pdf | |
| 787 | 0 | |n https://doaj.org/toc/2287-1012 | |
| 787 | 0 | |n https://doaj.org/toc/2287-1292 | |
| 856 | 4 | 1 | |u https://doaj.org/article/a7cb551c04b24bd08b38f19c71ec32b5 |z Connect to this object online. |