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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.

Abstract

Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1–18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure.