Italian 
English CASI CLINICI – Case Reports
Volume:
Biochimica Clinica 2020; 44(3) e023-e026
Pubblicato on-line:
Febbraio 9, 2023
DOI:
10.19186/BC_2020.041
È tempo di ridefinire gli intervalli di riferimento e terapeutici della cupruria nella malattia di Wilson?
Is it time to redefine cupruria reference and therapeutic intervals in Wilson’s Disease?
AUTORI
1Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università Federico II, Napoli
2Dipartimento di Scienze Mediche Traslazionali, sezione Pediatria, Università Federico II, Napoli
3Dipartimento di Scienze Mediche Traslazionali, sezione Medicina Interna, Università Federico II, Napoli
4U.O.S. di Epatologia Pediatrica, Azienda Ospedaliera Universitaria Federico II, Napoli
5D.A.I. Medicina di Laboratorio e Trasfusionale, Azienda Ospedaliera Universitaria Federico II, Napoli
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-transporting gene ATP7B. WD leads to hepatic copper retention with subsequently clinical manifestations in different organs. The biochemical diagnostic approach includes measurement of serum ceruloplasmin levels and 24-hour urinary copper excretion (uCu/24h). WD patients are generally treated with D-penicillamine and cupruria is necessary to confirm the efficacy of maintenance treatment and the patient’s adherence to therapy. A 30-year-old man was diagnosed with WD at the age of 5 and, since then, was treated with D-penicillamine. In this patient the uCu/24h values never fell within the range recommended by International Guidelines, but no clinical or subclinical progressions of the disease were found. The information derived from this single WD patient, monitored by serial clinical and laboratory checks for more than twenty years, may be useful for a better long-term management of WD, although we suggest that multicenter studies to re-define cupruria reference and therapeutic intervals are needed.