腎臓学と治療学ジャーナル

Wilson's Disease Presenting with Severe Thrombocytopenia and Urinary Symptoms: Case Report and Literature Review

Abstract

Elena Zakharova*,Golovkin BA

Wilson’s disease is inherited copper metabolism defect with primarily hepatic and also extra hepatic copper accumulation. Liver and other end organs damage - mainly cornea, brain and kidney, present with wide variety of symptoms, often resulting to misdiagnosis and delayed treatment. Liver manifestations range from asymptomatic liver and spleen enlargement to acute liver failure. Renal disturbances are rather usual and basically attributed to toxic effects of copper, leading to tubular dysfunction with impaired urate, calcium, phosphate, amino acids, potassium and glucose tubular handling. Thrombocytopenia is uncommon and happens mostly along with haemolytic anaemia. Here we present a case of Wilson’s disease, manifested with severe thrombocytopenia, splenomegaly and dark urine without haemolytic anaemia.