POS-426 IgAN in a patient with Wilson's Disease: a very rare association

Abstract

Wilson's disease (WD) is a genetic autosomal recessive disease, due to a mutation of the ATP7B gene, characterized by copper accumulation in the liver, eyes, and nerves. Renal involvement has been reported very rarely, affecting only 5 % of WD cases. We present a case of WD associated with IgA nephropathy (IgAN). Male patient with a diagnosis of WD established 11 years before the access at the Nephrology Unit. The patient initially presented with abdominal discomfort, undetectable serum ceruloplasmin levels, liver cirrhosis with an initial lenticular degeneration; the liver biopsy highlighted a hepatic copper concentration of 2930 mcg/g, also genetic investigations confirmed the diagnosis, with double heterozygosis for ATP7B gene. The patient started the therapy with copper chelators with a good clinical response through the years. At the age of 21 he presented for proteinuria (1062 mg/24h) and hematuria, with renal function in the normal range (glomerular filtration rate 121 mL/min). IgA levels in the blood were slightly above the range (489 mg/dl). Renal biopsy showed mesangial cell proliferation, IgA deposition, and electron-dense deposit in the mesangial areas, all of which are consistent with IgAN and steroid therapy was started (Figure 1,2,3).Figure 1. Figure 2. Figure 3. The occurrence of two rare disorders is a very uncommon event. Both diseases have a similar incidence rate with about 1 case per 30,000 live births. In literature 3 clinical cases of WD associated with IgAN have been reported. Two were reported in children and one case occurred in an adult patient. However, in the previous adult case both diseases were diagnosed contemporary and WD treatment with trientine hydrochloride and zinc acetate caused a decrease in the serum level of IgA levels after initiating chelating agents and also improvement in renal manifestations (reduced proteinuria and increased e-GFR). Our case’s uniqueness is the occurrence many years later the beginning of the therapy with zinc acetate dihydrate. This contrasts with previous theory since renal involvement with IgA nephropathy occurred despite the adequate pharmacological control of the copper dysregulation. This makes necessary steroid treatment in these patients.In conclusion, we suggest adding a screening for renal damage (creatinine and urinalysis) in the follow-up of patients with MW although under treatment and liver disease in remission.