Assessment of Renal Changes in Bardet–Biedl Syndrome with Particular Emphasis on Kidney Size, Function, and Blood Pressure Control
By: Zofia Moskal and Agnieszka Szmigielska
References
- McConnachie DJ, Stow JL, Mallett AJ. Ciliopathies and the Kidney: A Review. Am J Kidney Dis. 2021;77(3):410–419. doi: 10.1053/j.ajkd.2020.08.012.
- Florea L, Caba L, Gorduza EV. Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations. Genes (Basel). 2021;12(9):1353. doi: 10.3390/genes12091353.
- Shoemaker A. Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management. Diabetes Obes Metab. 2024; 26 Suppl 2:25–33. doi: 10.1111/dom.15494.
- Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013;21(1):8–13. doi: 10.1038/ejhg.2012.115.
- Tomlinson JW. Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction. Diabetes Obes Metab. 2024; 26 Suppl 2:13–24. doi: 10.1111/dom.15480.
- Chiang BK, Tsang SH, Sharma T, Diaconita V. Progressive Cone Dystrophy and Cone-Rod Dystrophy. Adv Exp Med Biol. 2025; 1467:61–67. doi: 10.1007/978-3-031-72230-1_12.
- Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. CNGB1-related rod-cone dystrophy: A mutation review and update. Hum Mutat. 2021;42(6):641–666. doi: 10.1002/humu.24205.
- Szmigielska A, Krzemień G, Roszkowska-Blaim M, Obersztyn E. Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. Dev Period Med. 2016;20(2):105–9. PMID: 27442694.
- Comer GC, Potter M, Ladd AL. Polydactyly of the Hand. J Am Acad Orthop Surg. 2018;26(3):75–82. doi: 10.5435/JAAOS-D-16-00139
- Tsang SH, Aycinena ARP, Sharma T. Ciliopathy: Bardet-Biedl Syndrome. Adv Exp Med Biol. 2018; 1085:171–174. doi: 10.1007/978-3-319-95046-4_33.
- Starks RD, Beyer AM, Guo DF, Boland L, Zhang Q, Sheffield VC, Rahmouni K. Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. PLoS Genet. 2015;11(6):e1005311. doi: 10.1371/journal.pgen.1005311.
- Forsythe E, Mallya UG, Yang M, Huber C, Cala ML, Greatsinger A, Hagopian E, Pomeroy J, Haqq AM. Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study. Orphanet J Rare Dis. 2023;18(1):181. doi: 10.1186/s13023-023-02692-8.
- Nowak-Ciołek M, Ciołek M, Tomaszewska A, Hildebrandt F, Kitzler T, Deutsch K, Lemberg K, Shril S, Szczepańska M, Zachurzok A. Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review. Front Endocrinol (Lausanne). 2024;15:1424819. doi: 10.3389/fendo.2024.1424819.
- Koscinski I, Mark M, Messaddeq N, Braun JJ, Celebi C, Muller J, Zinetti-Bertschy A, Goetz N, Dollfus H, Rossignol S. Reproduction Function in Male Patients With Bardet Biedl Syndrome. J Clin Endocrinol Metab. 2020;105(12):e4417–29. doi: 10.1210/clinem/dgaa551.
- Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol. 2007;22(7):926–36. doi: 10.1007/s00467-007-0435-0.
- Cetiner M, Finkelberg I, Schiepek F, Pape L, Hirtz R, Büscher AK. Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome. Orphanet J Rare Dis. 2024;19(1):425. doi: 10.1186/s13023-024-03400-w.
- Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford DV, Bockenhauer D, Foggensteiner L, Beales PL. Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. J Am Soc Nephrol. 2017;28(3):963–970. doi: 10.1681/ASN.2015091029.
- Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999 Jun;36(6):437–46. PMID: 10874630.
- Putoux A, Attie-Bitach T, Martinovic J, Gubler MC. Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney. Pediatr Nephrol. 2012;27(1):7–15. doi: 10.1007/s00467-010-1751-3.
- Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, Sarda P, Hamel CP, Brandt C, Dollfus H, Moulin B. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol. 2011 Jan;6(1):22–9. doi: 10.2215/CJN.03320410.
- Akhila P, Naik J, Arun Babu T. Bardet-Biedl syndrome presenting with early-onset infantile obesity. BMJ Case Rep. 2026;19(1):e268160. doi: 10.1136/bcr-2025-268160.
- Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W, Parfrey PS. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med. 1988;319(10):615–8. doi: 10.1056/NEJM198809083191005.
- Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM. Kidney failure in Bardet-Biedl syndrome. Clin Genet. 2022;101(4):429–441. doi: 10.1111/cge.14119.
- Atmış B, Karabay-Bayazıt A, Melek E, Bişgin A, Anarat A. Renal features of Bardet Biedl syndrome: A single center experience. Turk J Pediatr. 2019;61(2):186–192. doi: 10.24953/turkjped.2019.02.006.
- Beales PL, Cetiner M, Haqq AM, Miller J, Shoemaker AH, Valverde D, Zacchia M, Dollfus H. Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management. Obes Rev. 2025;26(7):e13915. doi: 10.1111/obr.13915.
DOI: https://doi.org/10.34763/jmotherandchild.20263001.d-26-00009 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
Language: English
Page range: 123 - 128
Submitted on: Feb 24, 2026
Accepted on: Apr 28, 2026
Published on: Jun 28, 2026
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
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© 2026 Zofia Moskal, Agnieszka Szmigielska, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.