Kidney stones in patients with Wilson's disease at a tertiary hospital in Northeastern Brazil.

Abstract

Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene leading to abnormal copper accumulation in tissues. Although the hepatic and neuropsychiatric effects of WD are well-documented, renal complications such as nephrolithiasis are less explored. This article examines the prevalence of nephrolithiasis and associated risk factors in a cohort of 36 WD patients. We also review reported cases and proposed mechanisms explaining copper-induced renal toxicity's role in the clinical presentation. In our cohort, nephrolithiasis was detected via abdominal ultrasound in 10% of patients. Although hypercalciuria and acid-base abnormalities associated with WD have been reported in the literature, such findings were not observed in metabolic evaluations performed late in the disease course among our WD patients with kidney stones. Recognizing the less acknowledged renal manifestations of WD highlights the importance of comprehensive evaluations and timely therapeutic interventions to prevent complications and improve outcomes in WD.