title: Renal impairment in different phenotypes of Wilson disease.
abstract: Wilson's disease (WD) is a rare autosomal recessive genetic disease resulting in the chronic deposition of copper in both liver and brain. This can lead to hepatic, neurologic, and psychiatric manifestations. Renal impairment can occur in any period of WD, but the mechanism is not yet known. In this study, we analyzed the clinical data of 691 newly diagnosed WD patients to investigate the blood urea nitrogen (BUN), creatinine (Cr), and uric acid (UA) levels in different subtypes of WD. This study included 691 newly diagnosed WD patients, 34 asymptomatic cases, and 127 healthy controls. The entire sample was assessed for serum levels of BUN, Cr, and UA. We found that the levels of BUN and Cr in WD patients who had neurological manifestations were higher (p < 0.001). In contrast, those patients presenting with a combined neurological and hepatic condition showed the lowest serum levels of UA (p = 0.026). There are differences in renal impairment between the endo-phenotypes of WD. Renal impairment can reflect differential copper deposition in organs other than the liver.
authors.affiliation: Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
authors.forename: Honghao
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Neurology, Hospital Affiliated to Institute of Neurology Anhui College of TCM, Hefei, China.
authors.forename: Zhihua
authors.initials: Z
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Hospital Affiliated to Institute of Neurology Anhui College of TCM, Hefei, China. hu_jiyuan@163.com.
authors.forename: Jiyuan
authors.initials: J
authors.lastname: Hu
authors.affiliation: Department of Neurology, Hospital Affiliated to Institute of Neurology Anhui College of TCM, Hefei, China. hanyongzhutcm@163.com.
authors.forename: Yongzhu
authors.initials: Y
authors.lastname: Han
authors.affiliation: Department of Neurology, Hospital Affiliated to Institute of Neurology Anhui College of TCM, Hefei, China.
authors.forename: Xun
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Neurology, Hospital Affiliated to Institute of Neurology Anhui College of TCM, Hefei, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Cheng
authors.affiliation: Department of Neurology, Hospital Affiliated to Institute of Neurology Anhui College of TCM, Hefei, China.
authors.forename: Yunfan
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Neurology, Hospital Affiliated to Institute of Neurology Anhui College of TCM, Hefei, China.
authors.forename: Renmin
authors.initials: R
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D001806:Blood Urea Nitrogen; D003404:Creatinine / Q000097:blood*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood*; D006801:Humans; D007674:Kidney Diseases / Q000097:blood*; D008297:Male; D010641:Phenotype; D012720:Severity of Illness Index; D014527:Uric Acid / Q000097:blood*; D055815:Young Adult
chemical_list: D014527:Uric Acid; D003404:Creatinine
keywords: Blood urea nitrogen; Creatinine; Phenotypes; Uric acid; Wilson’s disease