ReviewKidney diseases (Basel, Switzerland)2017
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect.
Review in Kidney diseases (Basel, Switzerland), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.Children (Basel, Switzerland) · 2026Article
- Bardet-Biedl syndrome in two sibling pairs: a case series.Journal of medical case reports · 2026Article
- Bardet-Biedl syndrome: a rare cause of end-stage kidney disease. Case report.Annals of medicine and surgery (2012) · 2025Article
- Renal Transplant in a Bardet-Biedl Syndrome Patient: A First Case From Azerbaijan.Case reports in medicine · 2025Article
- Chronic kidney disease on the background of bardet-biedl syndrome: a case report and review of literature.Annals of medicine and surgery (2012) · 2024Article
- Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.Frontiers in endocrinology · 2024Review
- Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.Therapeutics and clinical risk management · 2023Review
- 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
- Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report.Clinical case reports · 2022Article
- Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.Clinical kidney journal · 2021Article
- A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.Human molecular genetics · 2021Article
- Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome.Kidney international reports · 2020Review
- ERK1,2 Signalling Pathway along the Nephron and Its Role in Acid-base and Electrolytes Balance.International journal of molecular sciences · 2019Review
- Urinary proteome in inherited nephrolithiasis.Urolithiasis · 2019Review
- The importance of the thick ascending limb of Henle's loop in renal physiology and pathophysiology.International journal of nephrology and renovascular disease · 2018Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe ciliopathies are a growing number of disorders caused by mutations in genes involved in the function of the primary cilium. Bardet-Biedl syndrome (BBS) belongs to this group of disorders. In this setting, kidney dysfunction is highly variable, and urine concentrating defect, a common feature of multiple ciliopathies, has been described as the most frequent defect. Here we review the mechanism of urine concentration and describe the possible mechanism underling this defect in ciliopathies and especially BBS, based on the current body of literature. SUMMARY: Active Na KEY MESSAGE: Impaired water handling in BBS is associated with AQP2 mistrafficking. The potential role of additional factors, such as the dissipation of the medullary osmotic gradient due to TAL dysfunction and/or structural anomalies, remains to be elucidated.
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