Wilson disease and lupus nephritis: is it coincidence or a true association?

A 12-year-old girl born to third-degree consanguineous parents presented with recurrent episodes of haematuria for 8 months in association with peri-orbital and lower limb oedema for 20 days. There was no jaundice, hepatomegaly or neurological abnormality at presentation. An older brother had died following jaundice at 10 years of age. Urinalysis showed multiple dysmorphic erythrocytes without proteinuria and there was leucopenia, thrombocytopenia and hypo-albuminaemia (23 g/L). C₃ component of complementaemia was low and anti-nuclear antibodies and anti-double-stranded DNA antibodies were strongly positive by immunofluorescence. Systemic lupus erythematosus (SLE) was considered but the severe hypo-albuminaemia was unexplained. During the pre-renal biopsy work-up, a deranged coagulation profile with raised transaminases prompted evaluation for chronic liver disease which culminated in the diagnosis of Wilson disease. Treatment with penicillamine and immunosuppressants was initiated, but there was neurological deterioration on Day 30 of admission and she died owing to worsening liver failure on the Day 41. Post-mortem liver biopsy demonstrated cirrhosis and post-mortem renal biopsy showed features of class-II lupus nephritis. Auto-immune antibodies and autoimmune disorders have been reported in Wilson disease and there are anecdotal reports of an association of SLE with Wilson disease. However, this case is unique in that lupus nephritis was the presenting manifestation before Wilson disease was diagnosed. The underlying pathophysiological mechanisms of this association requires further research.