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Background:
Wilsons disease (WD) is a rare autosomal-recessive disorder characterized by a mutation in the ATP7B gene, located on chromosome 13, which encodes a protein involved in the metabolism of copper.
Official Journal of Research Center for Gastroenterology and Liver Diseases
e-ISSN 1735-3408
p-ISSN 1735-143X
Hypercalciuria and Nephrocalcinosis as Early Feature of Wilson Disease Onset: Description of a Pediatric Case and Literature Review
Authors
1Department of Pediatrics, University of Catania, [email protected], Italy
*Corresponding Author: Department of Paediatrics, University of Catania, Via Santa Sofia 78/ 95124, [email protected], Italy. Tel: +39-953782764. Fax: +39-953782395. Email: [email protected]
Published online:Aug 25, 2012
Article type:Case Report
Received:May 12, 2012
Accepted:Jun 16, 2012
How to Cite:Di Stefano V, Lionetti E, Rotolo N, La Rosa M, Leonardi S. Hypercalciuria and Nephrocalcinosis as Early Feature of Wilson Disease Onset: Description of a Pediatric Case and Literature Review. Hepat Mon. 2012;12(8):6233. doi: https://doi.org/10.5812/hepatmon.6233
Abstract
Case Presentation:
We described the case of an Indian male with a history of polydipsia and polyuria, related to hypercalciuria and consequent nephrocalcinosis. The symptoms began at the age of five years old, but he was not diagnosed with WD until he reached an adolescent age. We started therapy with D-Penicillamine, B-vitamin complex and recommended a low copper diet. Renal involvement in Wilsons disease, characterizing by hypercalciuria, was firstly reported by Litin in 1959.
Conclusion:
Our case was different and peculiar from the previously described cases because the patient presented a very long history (10 years) of permanent hypercalciuria without any acute episode of nephrolithiasis.
Copyright
© 2012, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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