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World J Hepatol. Mar 27, 2013; 5(3): 156-159
Published online Mar 27, 2013. doi: 10.4254/wjh.v5.i3.156
Published online Mar 27, 2013. doi: 10.4254/wjh.v5.i3.156
Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases
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
Jong Hyun Kim, Department of Pediatrics, St. Vincent’s Hospital, The Catholic University of Korea, Paldal-gu, Suwon, Kyounggi-do 423-067, South Korea
Kyung Hoon Kang, Department of Pathology, Seoul National University Children’s Hospital, Jongro-gu, Seoul 110-744, South Korea
Author contributions: Kim JW, Kim JH, Seo JK, Ko JS, Chang JY and Yang HR wrote the case report; Kang KH provided the slides from the patient.
Correspondence to: Jeong Kee Seo, MD, PhD, Professor, Department of Pediatrics, Seoul National University Children’s Hospital, 28 Yongon-dong, Jongro-gu, Seoul 110-744, South Korea. jkseo@snu.ac.kr
Telephone: +82-2-20723627 Fax: +82-2-7433455
Received: August 24, 2011
Revised: November 4, 2011
Accepted: November 14, 2012
Published online: March 27, 2013
Revised: November 4, 2011
Accepted: November 14, 2012
Published online: March 27, 2013
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.
Keywords: Hepatolenticular degeneration; Wilson disease; Early diagnosis; Molecular genetics; Mutation