ArticleClinical kidney journal2021
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.
Article in Clinical kidney journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 15 citations in OpenAlex.
- CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.Kidney international reports · 2025Article
- Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes.Frontiers in veterinary science · 2025Article
- Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.Molecular vision · 2025Article
- Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.European journal of human genetics : EJHG · 2024Review
- Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.International journal of molecular sciences · 2024Review
- Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.Frontiers in endocrinology · 2024Review
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- Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.Therapeutics and clinical risk management · 2023Review
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- Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome.International journal of molecular sciences · 2022Article
- Kidney failure in Bardet-Biedl syndrome.Clinical genetics · 2022Article
- Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome.Scientific reports · 2021Article
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 <60 mL/min/1.73 m
conclusionsHyposthenuria is a warning sign predicting poor renal outcome in BBS. The pathophysiology of this defect is most likely beyond defective tubular function.
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