Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.

Journal: Clinical kidney journal
Published Date: Dec 6, 2020

Abstract

BACKGROUND: Urine concentrating defect is a common dysfunction in ciliopathies, even though its underlying mechanism and its prognostic meaning are largely unknown. This study assesses renal function in a cohort of 54 Bardet-Biedl syndrome (BBS) individuals and analyses whether renal hyposthenuria is the result of specific tubule dysfunction and predicts renal disease progression.

Authors

  • Miriam Zacchia
    Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Francesca Del Vecchio Blanco
    Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Annalaura Torella
    Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Raffaele Raucci
    Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Giancarlo Blasio
    Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Maria Elena Onore
    Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Emanuela Marchese
    Department of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Francesco Trepiccione
    Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Caterina Vitagliano
    Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Valentina Di Iorio
    Multidisciplinary Department of Medical, Eye Clinic, Surgical and Dental Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Perna Alessandra
    Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Francesca Simonelli
    Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Vincenzo Nigro
    Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Giovambattista Capasso
    Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Davide Viggiano
    Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

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