Renal tubular injury as an uncommon presentation of Wilson’s disease

Abstract

Wilson's disease is an autosomal recessive disorder caused by a mutant ATP7B gene on chromosome 13. This mutation causes a reduction in hepatic copper excretion, which accumulates in hepatocytes and deposits in other tissues and organs (brain, cornea, kidney, etc.) as the disease progresses. Wilson's disease was described worldwide, with estimated prevalence of one case per 30,000 live births. Age of presentation is usually 4-60 years; however, the disease may present at any age. Clinical manifestations are predominantly hepatic, neurologic and psychiatric. Renal involvement is less common and characterized by proximal tubular dysfunction, Glomerular Filtration Rate (GFR) decline, renal tubular acidosis, aminoaciduria and nephrolithiasis. Herein, we aimed to report a case which describes an uncommon path to the diagnosis of this rare, yet well-known disease. The diagnosis resulted from an investigation of acute kidney injury in a 48-year-old man. Keywords: Wilson’s disease; Acute kidney injury; Renal tubular injury.