Is it time to redefine cupruria reference and therapeutic intervals in Wilson's Disease? Wilson’s Disease (WD) is an autosomal recessive genetic disease caused by mutations to the copper-transportinggene ATP7B. WD leads to hepatic copper retention with subsequently clinical manifestations in different organs. Thebiochemical diagnostic approach includes measurement of serum ceruloplasmin levels and 24-hour urinary copperexcretion (uCu/24h). WD patients are generally treated with D-penicillamine and cupruria is necessary to confirm theefficacy of maintenance treatment and the patient's adherence to therapy. A 30-year-old man was diagnosed with WDat the age of 5 and, since then, was treated with D-penicillamine. In this patient the uCu/24h values never fell withinthe range recommended by International Guidelines, but no clinical or subclinical progressions of the disease werefound. The information derived from this single WD patient, monitored by serial clinical and laboratory checks for morethan twenty years, may be useful for a better long-term management of WD, although we suggest that multicenterstudies to re-define cupruria reference and therapeutic intervals are needed

È tempo di ridefinire gli intervalli di riferimento e terapeutici della cupruria nella malattia di Wilson?

Fabiola Di Dato;Margherita Matarazzo;Raffaele Iorio;Marcella Savoia
2020

Abstract

Is it time to redefine cupruria reference and therapeutic intervals in Wilson's Disease? Wilson’s Disease (WD) is an autosomal recessive genetic disease caused by mutations to the copper-transportinggene ATP7B. WD leads to hepatic copper retention with subsequently clinical manifestations in different organs. Thebiochemical diagnostic approach includes measurement of serum ceruloplasmin levels and 24-hour urinary copperexcretion (uCu/24h). WD patients are generally treated with D-penicillamine and cupruria is necessary to confirm theefficacy of maintenance treatment and the patient's adherence to therapy. A 30-year-old man was diagnosed with WDat the age of 5 and, since then, was treated with D-penicillamine. In this patient the uCu/24h values never fell withinthe range recommended by International Guidelines, but no clinical or subclinical progressions of the disease werefound. The information derived from this single WD patient, monitored by serial clinical and laboratory checks for morethan twenty years, may be useful for a better long-term management of WD, although we suggest that multicenterstudies to re-define cupruria reference and therapeutic intervals are needed
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/824791
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