Renal impairment in different phenotypes of Wilson disease

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.