Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Nephrology
Volume 2015 (2015), Article ID 764973, 5 pages
http://dx.doi.org/10.1155/2015/764973
Case Report

Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure

1Department of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, Turkey
2Department of Nephrology, Mugla Sitki Kocman University Education and Research Hospital, 48000 Mugla, Turkey
3Department of Endocrinology, School of Medicine, Mugla Sıtkı Kocman University, 48000 Mugla, Turkey

Received 16 March 2015; Revised 3 April 2015; Accepted 3 April 2015

Academic Editor: Yoshihide Fujigaki

Copyright © 2015 Cem Sahin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. O. M'Hamdi, I. Ouertani, and H. Chaabouni-Bouhamed, “Update on the genetics of bardet-biedl syndrome,” Molecular Syndromology, vol. 5, no. 2, pp. 51–56, 2014. View at Publisher · View at Google Scholar · View at Scopus
  2. O. M'hamdi, C. Redin, C. Stoetzel et al., “Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis,” Clinical Genetics, vol. 85, no. 2, pp. 172–177, 2014. View at Publisher · View at Google Scholar · View at Scopus
  3. B. Pawlik, A. Mir, H. Iqbal et al., “A novel familial BBS12 mutation associated with a mild phenotype: implications for clinical and molecular diagnostic strategies,” Molecular Syndromology, vol. 1, no. 1, pp. 27–34, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. S. J. Shin, M. Kim, H. Chae et al., “Identification of compound heterozygous mutations in the BBS7 Gene in a Korean family with Bardet-Biedl Syndrome,” Annals of Laboratory Medicine, vol. 35, no. 1, pp. 181–184, 2015. View at Publisher · View at Google Scholar
  5. M. V. Nachury, A. V. Loktev, Q. Zhang et al., “A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis,” Cell, vol. 129, no. 6, pp. 1201–1213, 2007. View at Publisher · View at Google Scholar · View at Scopus
  6. S. Y. Wong and J. F. Reiter, “The primary cilium at the crossroads of mammalian hedgehog signaling,” Current Topics in Developmental Biology, vol. 85, pp. 225–260, 2008. View at Google Scholar
  7. A. Mockel, Y. Perdomo, F. Stutzmann, J. Letsch, V. Marion, and H. Dollfus, “Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies,” Progress in Retinal and Eye Research, vol. 30, no. 4, pp. 258–274, 2011. View at Publisher · View at Google Scholar · View at Scopus
  8. E. Forsythe and P. L. Beales, “Bardet-Biedl syndrome,” European Journal of Human Genetics, vol. 21, no. 1, pp. 8–13, 2013. View at Publisher · View at Google Scholar · View at Scopus
  9. A. Putoux, T. Attie-Bitach, J. Martinovic, and M.-C. Gubler, “Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney,” Pediatric Nephrology, vol. 27, no. 1, pp. 7–15, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. K. Baker, G. B. Northam, W. K. Chong, T. Banks, P. Beales, and T. Baldeweg, “Neocortical and hippocampal volume loss in a human ciliopathy: a quantitative MRI study in Bardet-Biedl syndrome,” American Journal of Medical Genetics Part A, vol. 155, no. 1, pp. 1–8, 2011. View at Publisher · View at Google Scholar · View at Scopus
  11. B. Sowjanya, U. Sreenivasulu, J. N. Naidu, and N. Sivaranjani, “End stage renal disease, differential diagnosis, a rare genetic disorder: Bardet-Biedl syndrome: case report and review,” Indian Journal of Clinical Biochemistry, vol. 26, no. 2, pp. 214–216, 2011. View at Publisher · View at Google Scholar · View at Scopus
  12. M. R. Ansari and A. M. Junejo, “Bardet-biedl syndrome presenting with end stage renal failure,” Journal of the College of Physicians and Surgeons Pakistan, vol. 16, no. 7, pp. 487–488, 2006. View at Google Scholar · View at Scopus
  13. M. K. Raychowdhury, A. J. Ramos, P. Zhang et al., “Vasopressin receptor-mediated functional signaling pathway in primary cilia of renal epithelial cells,” American Journal of Physiology—Renal Physiology, vol. 296, no. 1, pp. F87–F97, 2009. View at Publisher · View at Google Scholar · View at Scopus
  14. O. Imhoff, V. Marion, C. Stoetzel et al., “Bardet-biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort,” Clinical Journal of the American Society of Nephrology, vol. 6, no. 1, pp. 22–29, 2011. View at Publisher · View at Google Scholar · View at Scopus