| Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: description of a pediatric case and literature review. | |
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MedLine Citation:
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PMID: 23087754 Owner: NLM Status: PubMed-not-MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Wilson's 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 Wilson's 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. |
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Authors:
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Valeria Di Stefano; Elena Lionetti; Novella Rotolo; Mario La Rosa; Salvatore Leonardi |
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Publication Detail:
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Type: Journal Article Date: 2012-08-25 |
Journal Detail:
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Title: Hepatitis monthly Volume: 12 ISSN: 1735-3408 ISO Abbreviation: Hepat Mon Publication Date: 2012 Aug |
Date Detail:
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Created Date: 2012-10-22 Completed Date: 2012-10-23 Revised Date: 2013-02-19 |
Medline Journal Info:
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Nlm Unique ID: 101277874 Medline TA: Hepat Mon Country: Iran |
Other Details:
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Languages: eng Pagination: e6233 Citation Subset: - |
Affiliation:
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Department of Pediatrics, University of Catania, Catania, Italy. |
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