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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Опубликовано в: :Am J Physiol Renal Physiol
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: American Physiological Society 2016
Предметы:
Translational Physiology
Online-ссылка: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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