Renal Dysplasia in Bardet-Biedl Syndrome/ Бубрежна Дисплазија Кај Бардет Бидл Синдром
References
- 1. Sanna-Cherchi S, Ravani P, Corbani V, Parodi S, Haupt R, Piaggio G, et al. Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int. 2009; 76: 528-33.
- 2. Guo D. F, Rahmouni K. Molecular basis of the obesity associated with Bardet-Biedl syndrome.Trends Endocrinol Metab. 2011; 22: 286-93.
- 3. Andrade L. J, Andrade R, França C. S, Bittencourt A. V. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. Obes Rev. 2002; 3: 123-35.
- 4. Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F. A review of the literature of Bardet- Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Ann Endocrinol (Paris). 2008; 69: 463-71.
- 5. Rooryck C, Lacombe D. Bardet-Biedl syndrome. Minerva Endocrinol. 1998; 23: 83-92.
- 6. Iannello S, Fagone S, Grasso G, Ierna D, Meli S, Pennisi P, et al. A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin- resistant diabetes mellitus]. Pediatr Res. 2004; 55: 908-11.
- 7. M'hamdi O, Ouertani I, Chaabouni-Bouhamed H. Update on the genetics of bardet-biedl syndrome. Mol Syndromol. 2014; 5: 51-6.
- 8. Sheffield V. C. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Trends Mol Med. 2004; 10: 106-9.
- 9. Beales P, Elcioglu N, Woolf A, Parker D, Flinter F. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999; 36: 437-446.
- 10. Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, et al. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol. 2011; 6: 22-9.
- 11. Billingsley G, Vincent A, Deveault C, Héon E. Mutational analysis of SDCCAG8 in Bardet-Biedl syn drome patients with renal involvement and absent polydactyly. Ophthalmic Genet. 2012; 33: 150-4.
- 12. Mihai C, Marshall J, Stoicescu R. Bardet-Biedel syndrome with end -stage kidney disease in a four-yearold Romanian boy: a case report. J Med Case Reports. 2011; 5: 378.
- 13. Hooda A. K, Karan S. C, Bishnoi J. S, Nandwani A, Sinha T. Renal transplant in a child with Bardet- Biedl syndrome: A rare cause of end-stage renal disease. Indian J Nephrol. 2009; 19: 112-4.
- 14. Valavi E, Ansari M. J, Ahmadzadeh A. Bardet-biedl syndrome in a child with chronic kidney disease. Saudi J Kidney Dis Transpl. 2009; 20: 454-7.
- 15. Momtaz H. E, Amanati A. Continuous ambulatory peritoneal dialysis for a patient with Bardet-Biedl syndrome. Iran J Kidney Dis. 2008; 2: 237-9.
- 16. Cherian M. P, Al-Sanna'a N. A, Ayyat F. M. Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome. J Pediatr Urol. 2008; 4: 313-6.
- 17. Dervisoglu E, Isgoren S, Kasgari D, Demir H, Yilmaz A. Obesity control and low protein diet preserve or even improve renal functions in Bardet-Biedl syndrome: a report of two cases. Med Sci Monit. 2011; 17: CS12-14.
DOI: https://doi.org/10.1515/prilozi-2015-0048 | Journal eISSN: 1857-8985 (formerly 0350-1914) | Journal ISSN: 1857-9345
Language: English, Russian
Page range: 213 - 217
Published on: Jun 16, 2015
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 3 issues per year
Related subjects:
© 2015 Nadica Ristoska Bojkovska, Lidvana Spahiu, Aleksandra Janchevska, Zoran S. Gucev, Velibor Tasic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.