HYPERCALCIURIA AND NEPHROCALCINOSIS AS EARLY FEATURE OF WILSON DISEASE ONSET: DESCRIPTION OF A PEDIATRIC CASE AND LITERATURE REVIEW

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STEFANO VALERIA DI; LIONETTI ELENA; ROTOLO NOVELLA; ROSA MARIO LA; LEONARDI SALVATORE

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Journal: Hepatitis Monthly Year:2012 | Volume:12 | Issue:8 Page(s): 1-4

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Title

HYPERCALCIURIA AND NEPHROCALCINOSIS AS EARLY FEATURE OF WILSON DISEASE ONSET: DESCRIPTION OF A PEDIATRIC CASE AND LITERATURE REVIEW

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Keywords

HYPERCALCIURIA

NEPHROCALCINOSIS

HEPATOLENTICULAR DEGENERATION

POLYURIA

OSTEOPOROSIS

Abstract

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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APA: Copy

STEFANO, VALERIA DI, LIONETTI, ELENA, ROTOLO, NOVELLA, ROSA, MARIO LA, & LEONARDI, SALVATORE. (2012). HYPERCALCIURIA AND NEPHROCALCINOSIS AS EARLY FEATURE OF WILSON DISEASE ONSET: DESCRIPTION OF A PEDIATRIC CASE AND LITERATURE REVIEW. HEPATITIS MONTHLY, 12(8), 1-4. SID. https://sid.ir/paper/306802/en

Vancouver: Copy

STEFANO VALERIA DI, LIONETTI ELENA, ROTOLO NOVELLA, ROSA MARIO LA, LEONARDI SALVATORE. HYPERCALCIURIA AND NEPHROCALCINOSIS AS EARLY FEATURE OF WILSON DISEASE ONSET: DESCRIPTION OF A PEDIATRIC CASE AND LITERATURE REVIEW. HEPATITIS MONTHLY[Internet]. 2012;12(8):1-4. Available from: https://sid.ir/paper/306802/en

IEEE: Copy

VALERIA DI STEFANO, ELENA LIONETTI, NOVELLA ROTOLO, MARIO LA ROSA, and SALVATORE LEONARDI, “HYPERCALCIURIA AND NEPHROCALCINOSIS AS EARLY FEATURE OF WILSON DISEASE ONSET: DESCRIPTION OF A PEDIATRIC CASE AND LITERATURE REVIEW,” HEPATITIS MONTHLY, vol. 12, no. 8, pp. 1–4, 2012, [Online]. Available: https://sid.ir/paper/306802/en

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