title: Two brothers with bardet-biedl syndrome presenting with chronic renal failure.
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.
authors.affiliation: Department of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, Turkey.
authors.forename: Cem
authors.initials: C
authors.lastname: Sahin
authors.affiliation: Department of Nephrology, Mugla Sitki Kocman University Education and Research Hospital, 48000 Mugla, Turkey.
authors.forename: Bulent
authors.initials: B
authors.lastname: Huddam
authors.affiliation: Department of Endocrinology, School of Medicine, Mugla Sıtkı Kocman University, 48000 Mugla, Turkey.
authors.forename: Gulhan
authors.initials: G
authors.lastname: Akbaba
authors.affiliation: Department of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, Turkey.
authors.forename: Hasan
authors.initials: H
authors.lastname: Tunca
authors.affiliation: Department of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, Turkey.
authors.forename: Emine
authors.initials: E
authors.lastname: Koca
authors.affiliation: Department of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Levent