Hypercalciuria and Nephrocalcinosis as Early Feature of Wilson Disease Onset: Description of a Pediatric Case and Literature Review

AUTHORS

Valeria Di Stefano 1 , Elena Lionetti 1 , Novella Rotolo 1 , Mario La Rosa 1 , Salvatore Leonardi 1 , *

1 Department of Pediatrics, University of Catania, [email protected], Italy

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. Online ahead of Print ; 12(8):6233. doi: 10.5812/hepatmon.6233.

ARTICLE INFORMATION

Hepatitis Monthly: 12 (8); 6233
Published Online: August 25, 2012
Article Type: Case Report
Received: May 12, 2012
Accepted: June 16, 2012
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Abstract

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.

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.

Keywords

Hypercalciuria Nephrocalcinosis Hepatolenticular Degeneration Polyuria Osteoporosis

© 2012, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

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