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Editor-in-chief
Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091



BC: Articoli scritti da R. Iorio

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?
<p>Wilson&rsquo;s Disease (WD) is an autosomal recessive genetic disease caused by mutations to the copper-transporting gene <em>ATP7B</em>. 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&#39;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.</p>
Biochimica Clinica ; 44(3) e023-e026
Casi Clinici - Case Report