Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients
| Autor: | Giancarlo Blasio, Francesco Trepiccione, Raffaele Raucci, Perna Alessandra, Vincenzo Nigro, Francesca Simonelli, Maria Elena Onore, Giovambattista Capasso, Valentina Di Iorio, Miriam Zacchia, Davide Viggiano, Emanuela Marchese, Caterina Vitagliano, Annalaura Torella, Francesca Del Vecchio Blanco |
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| Přispěvatelé: | Zacchia, Miriam, Blanco, Francesca Del Vecchio, Torella, Annalaura, Raucci, Raffaele, Blasio, Giancarlo, Onore, Maria Elena, Marchese, Emanuela, Trepiccione, Francesco, Vitagliano, Caterina, Iorio, Valentina Di, Perna, Alessandra, Simonelli, Francesca, Nigro, Vincenzo, Capasso, Giovambattista, Viggiano, Davide |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
kidney disease 030232 urology & nephrology Urology Renal function GFR Excretion 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine medicine genetics AcademicSubjects/MED00340 030304 developmental biology 0303 health sciences Transplantation Kidney Creatinine business.industry urine osmolality Furosemide Original Articles medicine.disease medicine.anatomical_structure ciliopathy chemistry Nephrology Urine osmolality genetic business Hyposthenuria Kidney disease medicine.drug |
| Zdroj: | Clinical Kidney Journal |
| Popis: | BackgroundUrine 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.MethodsThe estimated glomerular filtration rate (eGFR), urine albumin:creatinine ratio (ACR) and maximum urine osmolality (max-Uosm) were measured in all patients. Genetic analysis was conducted in 43 patients. Annual eGFR decline (ΔeGFR) was measured in patients with a median follow-up period of 6.5 years. Urine aquaporin-2 (uAQP2) excretion was measured and the furosemide test was performed in patients and controls.ResultsAt baseline, 33 (61.1%), 12 (22.2%) and 9 (16.7%) patients showed an eGFR >90, 60–90 and 30 mg/g and 55.8% of patients showed urine concentrating defect in the absence of renal insufficiency. Baseline eGFR, but not max-Uosm, correlated negatively with age. Conversely, truncating mutations affected max-Uosm and showed a trend towards a reduction in eGFR. Max-Uosm correlated with ΔeGFR (P ConclusionsHyposthenuria is a warning sign predicting poor renal outcome in BBS. The pathophysiology of this defect is most likely beyond defective tubular function. |
| Databáze: | OpenAIRE |
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