End Stage Renal Disease, Differential Diagnosis, A Rare Genetic Disorder: Bardet–Biedl Syndrome: Case Report and Review

Sowjanya, B.; Sreenivasulu, U; Naidu, Jeevinesh; Sivaranjani, N

doi:10.1007/s12291-011-0116-4

Cited by 12 publications

(14 citation statements)

References 20 publications

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“…Rathi et al [14] described the first case from India with ESRD who was treated with continuous ambulatory peritoneal dialysis (CAPD). Sowjanya et al [2] reported a 16 year old female with ESRD. Prakash [9] reported another 30-yearold patient with BBS who had cysts in the left kidney with normal renal function.…”

Section: Discussionmentioning

confidence: 99%

“…Prakash [9] reported another 30-yearold patient with BBS who had cysts in the left kidney with normal renal function. ESRD in BBS patients has been reported at age range of 4-57 years [2][3][4][5][15][16][17][18][19]. Management of BBS is supportive and includes training and rehabilitation for blind and mentally retarded patients, hearing aids for deafness, and diet and exercise for obesity.…”

Section: Discussionmentioning

confidence: 99%

“…ESRD is the most common cause of death in BBS [1]. Only few reports have been described from India regarding ESRD/chronic kidney disease (CKD) in BBS [2][3][4][5]. Herein, we report a case of BBS with CKD in a 17 year female from India.…”

Section: Introductionmentioning

confidence: 99%

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Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

et al. 2012

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Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, and renal involvement. Renal failure is the commonest cause of death. We report a case of BBS with chronic kidney disease (CKD) at younger age (17 year) from India. This diagnosis should be considered in patients with renal disease and the characteristic phenotype of retinitis pigmentosa, postaxial polydactyly and central obesity. These patients should undergo regular monitoring of renal function test to early diagnosis and treatment of CKD to prevent morbidity and mortality. Renal transplantation is a viable option of renal replacement therapy in these patients. These findings are valuable for comparing phenotype of BBS patients with CKD from various national and international centers.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

et al. 2012

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“…Renal failure is one of the primary features and a major cause of morbidity and mortality in BBS patients [Imhoff et al, 2010;Sowjanya et al, 2011]. The renal abnormalities are variable but classically manifest with cystic tubular disease and anatomical malformations.…”

Section: Renal Abnormalitiesmentioning

confidence: 99%

Update on the Genetics of Bardet-Biedl Syndrome

2013

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Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in known BBS genes account for approximately 70-80% of cases, and triallelic inheritance has been suggested in about 5%. Many minor features can be helpful in making the clinical diagnosis. Recently, the use of next-generation sequencing technologies has accelerated the identification of novel genes and causative disease mutations in known genes. This report presents a concise overview of the current knowledge on clinical data in BBS and the progress in molecular genetics research. A future objective will be the development of BBS diagnosis kits in order to offer genetic counseling for families at risk.

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“…[1][2][3] Patients with ESRD have significantly increased morbidity and mortality, 4 and should receive a kidney transplant/live on dialysis. 5,6 Patient suffering from ESRD displays enhanced genomic damage, and DNA repair gene polymorphisms may affect DNA repair capacity and modulate susceptibility to ESRD.…”

Section: Introductionmentioning

confidence: 99%

Association of Endothelial Nitric Oxide Synthase Glu298Asp Gene Polymorphism with the Risk of End-Stage Renal Disease

Zhou

Yin

2013

Renal Failure

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The association between endothelial nitric oxide synthase (eNOS) Glu298Asp gene polymorphism and end-stage renal disease (ESRD) risk is still controversial. A meta-analysis was performed to evaluate the association between eNOS Glu298Asp gene polymorphism and ESRD susceptibility. A predefined literature search and selection of eligible relevant studies were performed to collect data from electronic database. Six articles were identified for the analysis of association between eNOS Glu298Asp gene polymorphism and ESRD risk. T allele was associated with ESRD susceptibility in overall populations and in Asians (overall populations: p ¼ 0.01, Asian: p < 0.00001). Furthermore, GG genotype might play a protective role against ESRD onset for overall populations, Asians, and Africans. However, a link between eNOS Glu298Asp gene polymorphism and ESRD risk was not found in Caucasians and Brazil population. In conclusion, T allele might become a significant genetic molecular marker for the onset of ESRD in overall populations, and in Asians. However, more studies should be performed in the future.

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End Stage Renal Disease, Differential Diagnosis, A Rare Genetic Disorder: Bardet–Biedl Syndrome: Case Report and Review

Cited by 12 publications

References 20 publications

Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

Update on the Genetics of Bardet-Biedl Syndrome

Association of Endothelial Nitric Oxide Synthase Glu298Asp Gene Polymorphism with the Risk of End-Stage Renal Disease

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