一名9个月大的男童经基因确诊为威尔逊病，伴有转氨酶升高。
Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases.
作者信息
Kim Joo Whee, Kim Jong Hyun, Seo Jeong Kee, Ko Jae Sung, Chang Ju Young, Yang Hye Ran, Kang Kyung Hoon
机构信息
Joo Whee Kim, Jeong Kee Seo, Jae Sung Ko, Ju Young Chang, Hye Ran Yang, Department of Pediatrics, Seoul National University Children's Hospital, Jongro-gu, Seoul 110-744, South Korea.
出版信息
World J Hepatol. 2013 Mar 27;5(3):156-9. doi: 10.4254/wjh.v5.i3.156.
Abstract
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in equivocal cases. We report a case of a 9-mo old boy with WD who presented as chronic hepatitis. Genetic analysis showed compound heterozygotes of p.G1186S and c.4006delA.
摘要
威尔逊病（WD）是一种由三磷酸腺苷酶7B基因改变引起的常染色体隐性铜转运障碍疾病。三岁以下诊断出WD的情况较为罕见。分子遗传学检测是最重要的诊断方法之一，在诊断不明确的病例中可确诊。我们报告一例9个月大患WD的男童，表现为慢性肝炎。基因分析显示为p.G1186S和c.4006delA的复合杂合子。
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