Good response with zinc acetate monotherapy in an adolescent affected by severe Wilson disease

M.G. Marazzi, S. Giardino, C. Dufour, M. Serafino, D. Sperlì, R. Giacchino
  • S. Giardino
    Paediatric Haematology and Oncology Unit, G. Gaslini Children’s Hospital, Genova, Italy
  • C. Dufour
    Paediatric Haematology and Oncology Unit, G. Gaslini Children’s Hospital, Genova, Italy
  • M. Serafino
    Department of Paediatrics, University of Genoa, Genova, Italy
  • D. Sperlì
    Department of Paediatrics, Azienda Ospedaliera di Cosenza, Cosenza, Italy
  • R. Giacchino
    Infectious Diseases Unit, G. Gaslini Children’s Hospital, Genova, Italy

Abstract

We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of < 20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia. Genetic testing revealed the presence of the H1069Q heterozygous mutation. The patient was treated with Zinc acetate monotherapy, with good response, maintened after 22 months. This case emphasizes the importance of recognizing atypical clinical presentation of Wilson disease, which must always be considered in patients with Coombs-negative haemolytic anaemia. The good clinical response to treatment with zinc acetate monotherapy in our case might lend to consider the use of zinc monotherapy as initial therapy also in symptomatic patients with Wilson disease under close clinical observation. Clinical trials are needed to provide evidence for use of zinc monotherapy as first-line therapy in symptomatic patients with Wilson disease.

Keywords

Haemolytic anaemia, Wilson disease, zinc acetate

Full Text:

PDF
Submitted: 2014-11-18 14:50:00
Published: 2012-04-30 00:00:00
Search for citations in Google Scholar
Related articles: Google Scholar
Abstract views:
423

Views:
PDF
362

Article Metrics

Metrics Loading ...

Metrics powered by PLOS ALM


Copyright (c) 2012 M.G. Marazzi, S. Giardino, C. Dufour, M. Serafino, D. Sperlì, R. Giacchino

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
 
© PAGEPress 2008-2018     -     PAGEPress is a registered trademark property of PAGEPress srl, Italy.     -     VAT: IT02125780185