Di Stefano Valeria, Lionetti Elena, Rotolo Novella, La Rosa Mario, Leonardi Salvatore
Department of Pediatrics, University of Catania, Catania, Italy.
Hepat Mon. 2012 Aug;12(8):e6233. doi: 10.5812/hepatmon.6233. Epub 2012 Aug 25.
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.
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.
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.
威尔逊病（WD）是一种罕见的常染色体隐性疾病，其特征是位于13号染色体上的ATP7B基因突变，该基因编码一种参与铜代谢的蛋白质。
我们描述了一名印度男性的病例，他有烦渴和多尿的病史，与高钙尿症及随之而来的肾钙质沉着症有关。症状始于5岁，但直到青春期才被诊断为WD。我们开始用青霉胺、复合维生素B进行治疗，并建议采用低铜饮食。1959年，利廷首次报道了以高钙尿症为特征的威尔逊病肾脏受累情况。
我们的病例与之前描述的病例不同且独特，因为该患者有长达10年的持续性高钙尿症病史，且没有任何肾结石急性发作。
