Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure
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 d...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2015-01-01
|
| Series: | Case Reports in Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2015/764973 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832548735609995264 |
|---|---|
| author | Cem Sahin Bulent Huddam Gulhan Akbaba Hasan Tunca Emine Koca Mustafa Levent |
| author_facet | Cem Sahin Bulent Huddam Gulhan Akbaba Hasan Tunca Emine Koca Mustafa Levent |
| author_sort | Cem Sahin |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7a14c40f59d04932ace830342e870fc2 |
| institution | Kabale University |
| issn | 2090-6641 2090-665X |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Nephrology |
| spelling | doaj-art-7a14c40f59d04932ace830342e870fc22025-02-03T06:13:14ZengWileyCase Reports in Nephrology2090-66412090-665X2015-01-01201510.1155/2015/764973764973Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal FailureCem Sahin0Bulent Huddam1Gulhan Akbaba2Hasan Tunca3Emine Koca4Mustafa Levent5Department of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, TurkeyDepartment of Nephrology, Mugla Sitki Kocman University Education and Research Hospital, 48000 Mugla, TurkeyDepartment of Endocrinology, School of Medicine, Mugla Sıtkı Kocman University, 48000 Mugla, TurkeyDepartment of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, TurkeyDepartment of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, TurkeyDepartment of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, TurkeyBardet-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.http://dx.doi.org/10.1155/2015/764973 |
| spellingShingle | Cem Sahin Bulent Huddam Gulhan Akbaba Hasan Tunca Emine Koca Mustafa Levent Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure Case Reports in Nephrology |
| title | Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure |
| title_full | Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure |
| title_fullStr | Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure |
| title_full_unstemmed | Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure |
| title_short | Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure |
| title_sort | two brothers with bardet biedl syndrome presenting with chronic renal failure |
| url | http://dx.doi.org/10.1155/2015/764973 |
| work_keys_str_mv | AT cemsahin twobrotherswithbardetbiedlsyndromepresentingwithchronicrenalfailure AT bulenthuddam twobrotherswithbardetbiedlsyndromepresentingwithchronicrenalfailure AT gulhanakbaba twobrotherswithbardetbiedlsyndromepresentingwithchronicrenalfailure AT hasantunca twobrotherswithbardetbiedlsyndromepresentingwithchronicrenalfailure AT eminekoca twobrotherswithbardetbiedlsyndromepresentingwithchronicrenalfailure AT mustafalevent twobrotherswithbardetbiedlsyndromepresentingwithchronicrenalfailure |