Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis

Context: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a metabolic disorder due to homozygous loss-of-function mutations in the SLC34A3 gene encoding the renal type IIc sodium-phosphate cotransporter (NaPi-IIc). The typical presentation is severe rickets and hypophosphatemia, and...

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Detalhes bibliográficos
Main Authors: Tencza, Amanda L., Ichikawa, Shoji, Dang, Anna, Kenagy, David, McCarthy, Edward, Econs, Michael J., Levine, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: The Endocrine Society 2009
Assuntos:
Brief Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775650/
https://ncbi.nlm.nih.gov/pubmed/19820004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-1535
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