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  • 标题:Creatinine Phosphokinase (CPK) Elevation in the Coexistence of Wilson's Disease and Autoimmune Hepatitis with Atypical Presentation: A Diagnostic Dilemma
  • 作者:Naghi Dara ; Amirhossein Hosseni ; Saleheh Tajalli
  • 期刊名称:International Journal of Pediatrics
  • 印刷版ISSN:2345-5047
  • 电子版ISSN:2345-5055
  • 出版年度:2018
  • 卷号:6
  • 期号:12
  • 页码:8697-8705
  • DOI:10.22038/ijp.2018.33235.2932
  • 语种:English
  • 出版社:Mashhad University of Medical Sciences
  • 其他摘要:Background: Wilson's disease (WD) is a genetic disorder with various clinical presentations due to excessive accumulation of copper in the liver and other organs. It can present as acute/chronic hepatitis, liver failure, extrahepatic and neuromuscular manifestations. Autoimmune hepatitis (AIH) is a necroinflammatory disease of the liver, which affects a lot of people particularly the children population. AIH has a broad clinical presentation that is similar to WD. Coexistence of WD with elevated creatinine phosphokinase (CPK) and AIH, may be a diagnostic dilemma. Case Report: We presented a 6 years old boy with dysarthria, aggressive behavior, weak attention, concentration and weight loss with abnormal physical examination. Laboratory, histochemical, genomic studies, muscle/liver biopsy and atomic absorption test confirmed the diagnosis of both WD and AIH in the boy. Conclusion Although CPK and liver enzyme elevation is a rare presentation of chronic hepatitis with dominant feature of WD and AIH; however, simultaneous therapy with immunosuppressive drugs and Penicillamine may have superior benefit with a significant response.
  • 其他关键词:Autoimmune hepatitis; Atypical presentation; Children; Coexistence; Wilson disease
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