Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 End stage renal disease, differential diagnosis, a rare genetic disorder: bardet-biedl syndrome: case report and review.

Literature DB >> 22468053

End stage renal disease, differential diagnosis, a rare genetic disorder: bardet-biedl syndrome: case report and review.

B Sowjanya¹, U Sreenivasulu, J N Naidu, N Sivaranjani.

Abstract

End stage renal disease (ESRD) represents a clinical condition in which there is an irreversible loss of endogenous renal function. Both structural and functional abnormalities of the kidney are associated with increased morbidity, mortality. Bardet-Biedel syndrome (BBS) is one of the rare genetic disorders with prevalence of 1 in 1, 40,000-1 in 1,60,000 worldwide. ESRD in BBS patients is the final stage of the disease, increasing mortality in youth.

Entities: Disease Species

Keywords: Bardet–Biedl syndrome; Differential diagnosis; End stage renal disease

Year: 2011 PMID： 22468053 PMCID： PMC3107414 DOI： 10.1007/s12291-011-0116-4

Source DB: PubMed Journal: Indian J Clin Biochem ISSN： 0970-1915

19 in total

Review 1. Expression of primary cilia in mammalian cells.

Authors: D N Wheatley; A M Wang; G E Strugnell
Journal: Cell Biol Int Date: 1996-01 Impact factor: 3.612

2. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.

Authors: Efrat Forti; Olga Aksanov; Ruth Z Birk
Journal: Int J Biochem Cell Biol Date: 2007-02-25 Impact factor: 5.085

3. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

Authors: Maxence V Nachury; Alexander V Loktev; Qihong Zhang; Christopher J Westlake; Johan Peränen; Andreas Merdes; Diane C Slusarski; Richard H Scheller; J Fernando Bazan; Val C Sheffield; Peter K Jackson
Journal: Cell Date: 2007-06-15 Impact factor: 41.582

4. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors: P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal: J Med Genet Date: 1999-06 Impact factor: 6.318

5. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

Authors: M Leppert; L Baird; K L Anderson; B Otterud; J R Lupski; R A Lewis
Journal: Nat Genet Date: 1994-05 Impact factor: 38.330

6. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Authors: Darryl Y Nishimura; Ruth E Swiderski; Charles C Searby; Erik M Berg; Amanda L Ferguson; Raoul Hennekam; Saul Merin; Richard G Weleber; Leslie G Biesecker; Edwin M Stone; Val C Sheffield
Journal: Am J Hum Genet Date: 2005-10-26 Impact factor: 11.025

5. A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl.

Authors: Syeda Hania Mahmood; Maria Khan; Laila Tul Qadar; Fareeha Yousuf; Mohammad Hasan
Journal: Cureus Date: 2019-09-21

5 in total

End stage renal disease, differential diagnosis, a rare genetic disorder: bardet-biedl syndrome: case report and review.

Review 1. Expression of primary cilia in mammalian cells.

2. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.

3. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

4. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

5. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

6. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

7. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

8. Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.

9. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.

10. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

Review 1. Update on the genetics of bardet-biedl syndrome.

2. Bardet-biedl syndrome: a rare cause of chronic kidney disease.

3. Two brothers with bardet-biedl syndrome presenting with chronic renal failure.

4. Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome.

5. A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl.