Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure
Joint Authors
Akbaba, Gülhan
Sahin, Cem
Levent, Mustafa
Huddam, Bulent
Tunca, Hasan
Koca, Emine
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-04-15
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Sahin, Cem& Huddam, Bulent& Akbaba, Gülhan& Tunca, Hasan& Koca, Emine& Levent, Mustafa. 2015. Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure. Case Reports in Nephrology،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058980
Modern Language Association (MLA)
Sahin, Cem…[et al.]. Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure. Case Reports in Nephrology No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1058980
American Medical Association (AMA)
Sahin, Cem& Huddam, Bulent& Akbaba, Gülhan& Tunca, Hasan& Koca, Emine& Levent, Mustafa. Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure. Case Reports in Nephrology. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058980
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058980