Article
Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.
American journal of physiology. Renal physiology - 1 Oct 2016
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
Abstract excerpt
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·min-1·1.73 m-2 Urine protein and urine albumin-to-creatinine ratio were over 200 and 30 mg/g in 9/24 and 7/23 patients,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.