Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion

The renal phenotype in Bardet-Biedl syndrome (BBS) is highly variable. The present study describes renal findings in 41 BBS patients and analyzes the pathogenesis of hyposthenuria, the most common renal dysfunction. Five of 41 patients (12%) showed an estimated glomerular filtration rate < 60 ml·...

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Detalhes bibliográficos
Publicado no:Am J Physiol Renal Physiol
Main Authors: Zacchia, Miriam, Zacchia, Enza, Zona, Enrica, Capolongo, Giovanna, Raiola, Ilaria, Rinaldi, Luca, Trepiccione, Francesco, Ingrosso, Diego, Perna, Alessandra, Di Iorio, Valentina, Simonelli, Francesca, Moe, Orson W., Capasso, Giovambattista
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2016
Assuntos:
Translational Physiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5142239/
https://ncbi.nlm.nih.gov/pubmed/27488999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajprenal.00224.2016
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