Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick...

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Detalhes bibliográficos
Publicado no:Clin Nephrol Case Stud
Main Authors: Vianna, Júlia Guasti P., Simor, Thiago Gabriel, Senna, Pamella, De Bortoli, Michell Roncete, Costalonga, Everlayny Fiorot, Seguro, Antonio Carlos, Luchi, Weverton Machado
Formato: Artigo
Idioma:Inglês
Publicado em: Dustri-Verlag Dr. Karl Feistle 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6528384/
https://ncbi.nlm.nih.gov/pubmed/31119091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5414/CNCS109595
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