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

Renal phenotype in Bardet-Biedl Syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion. Am J Physiol Renal Physiol. 2016 Aug 3;:ajprenal.00224.2016 Authors: Zacchia M, Zacchia E, Zona E, Capolongo G, Raiola I, Rinaldi L, Trepiccione F, Ingrosso D, Perna A, Di Iorio V, Simonelli F, Moe OW, Capasso G Abstract 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. 5/41 patients (12%) showed an estimated glomerular filtration rate
Source: Am J Physiol Renal P... - Category: Urology & Nephrology Authors: Tags: Am J Physiol Renal Physiol Source Type: research

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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
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