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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Di Stefano, Valeria, Lionetti, Elena, Rotolo, Novella, La Rosa, Mario, Leonardi, Salvatore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475018/
https://www.ncbi.nlm.nih.gov/pubmed/23087754
http://dx.doi.org/10.5812/hepatmon.6233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475018/
https://www.ncbi.nlm.nih.gov/pubmed/23087754
http://dx.doi.org/10.5812/hepatmon.6233

Ejemplares similares