Hepatolenticular degeneration with hidden pathology of liver: Case report
- 作者: Vyalova N.1, Doloka D.1, Proskokova T.1, Khelimskiy A.1
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隶属关系:
- Far-Eastern State Medical University, Ministry of Health of the Russian Federation
- 期: 卷 11, 编号 2 (2017)
- 页面: 72-75
- 栏目: Clinical analysis
- URL: https://journals.rcsi.science/2075-5473/article/view/124337
- DOI: https://doi.org/10.18454/ACEN.2017.2.10
- ID: 124337
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详细
A case of hepatolenticular degeneration (HLD) in a 27-year-old patient is reported. The earliest signs of the disease were observed as isolated psychoneurological symptoms (mainly as polymorphic extrapyramidal and cerebellar disorders). Neither clinical, nor laboratory, nor sonographic signs of liver pathology were detected. Liver pathology was revealed only during special examination by elastography. The diagnosis was verified by molecular genetic testing (detecting mutations in the АТР7В gene). Challenges of timely recognizing HLD and the modern potential of diagnosing the disease using the laboratory and instrumental techniques are discussed.
作者简介
Nadezhda Vyalova
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Email: proskokova2011@yandex.ru
俄罗斯联邦, Khabarovsk
Denis Doloka
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Email: proskokova2011@yandex.ru
俄罗斯联邦, Khabarovsk
Tatyana Proskokova
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
编辑信件的主要联系方式.
Email: proskokova2011@yandex.ru
俄罗斯联邦, Khabarovsk
Aleksandr Khelimskiy
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Email: proskokova2011@yandex.ru
俄罗斯联邦, Khabarovsk
参考
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