2011
DOI: 10.2215/cjn.03320410
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Bardet-Biedl Syndrome

Abstract: SummaryBackground and Objectives Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The molecular genetic profile of BBS is currently being investigated after the recent identification of 14 BBS genes involved in primary cilia-linked disease. This study aims to characterize the renal and cardiovascular presentations and to analyze possible … Show more

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Cited by 110 publications
(118 citation statements)
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References 25 publications
(28 reference statements)
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“…[8,9] An age-related evolution of the phenotype is well documented in BBS, [1,6] and the younger age distribution of our cohort may have influenced this. Primary enuresis was common into late childhood and adolescence in our cohort, and likely reflects the recognised urinary concentration deficits that occur in BBS.…”
Section: The New Millenniummentioning
confidence: 80%
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“…[8,9] An age-related evolution of the phenotype is well documented in BBS, [1,6] and the younger age distribution of our cohort may have influenced this. Primary enuresis was common into late childhood and adolescence in our cohort, and likely reflects the recognised urinary concentration deficits that occur in BBS.…”
Section: The New Millenniummentioning
confidence: 80%
“…[5] Additional reports have expanded both the ocular and systemic phenotype. [6][7][8][9] BBS is typically an autosomal recessive disorder. Although oligogenic inheritance is described, it is a highly heterogeneous condition and to date 21 genes (BBS 1-19, NPHP1 and IFT172) that account for more than 80% of affected individuals have been implicated.…”
Section: To Prof Peter Beighton 'Do Genetics and See The World ' …mentioning
confidence: 99%
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“…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%
“…Still, it represents a very rare indication for renal transplantation [8,15,16]. Such renal transplant patients are known to be at increased risk for the development of severe obesity, malignancies and cardiovascular complications after transplantation [17].…”
Section: Discussionmentioning
confidence: 99%