Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.
Miriam ZacchiaFrancesca Del Vecchio BlancoAnnalaura TorellaRaffaele RaucciGiancarlo BlasioMaria Elena OnoreEmanuela MarcheseFrancesco TrepiccioneCaterina VitaglianoValentina Di IorioPerna AlessandraFrancesca SimonelliVincenzo NigroGiovambattista CapassoDavide ViggianoPublished in: Clinical kidney journal (2020)
Hyposthenuria is a warning sign predicting poor renal outcome in BBS. The pathophysiology of this defect is most likely beyond defective tubular function.