Open AccessA Case Report and Literature Review of Wilson Disease
Author(s) -
Panpan Chen,
Yingying Zhang,
Qiu Linqing,
Xinxin Yu
Publication year - 2020
Publication title -
journal of clinical and nursing research
Language(s) - English
Resource type - Journals
eISSN - 2208-3693
pISSN - 2208-3685
DOI - 10.26689/jcnr.v4i3.1232
Subject(s) - ceruloplasmin , disease , medicine , wilson's disease , urinary system , mutation , life span , pediatrics , gene mutation , gastroenterology , gene , genetics , biology , gerontology
To investigate the clinical characteristics, auxiliary examination and treatment of Wilson’s disease(WD). The clinical data of a child with WD were summarized and analyzed comprehensively in conjunction with the literature reference. WD is a hereditary disease with a large age span, diverse early symptoms, high misdiagnosis rate, abnormal liver function, decreased ceruloplasmin, increased urinary copper, K-F rings, ATP7B gene mutation, ATP7B gene mutations, and abnormalities in abdominal and cranial brain imaging, which can be clearly diagnosed and require lifelong treatment. WD can be diagnosed according to the clinical manifestations and auxiliary examination to reduce misdiagnosis. The timely diagnosis and treatment will improve the prognosis the quality of life.