The importance of renal impairment in the natural history of bardet-biedl syndrome

O'Dea, D; Parfrey, Patrick S.; Harnett, John D.; Hefferton, Donna; Cramer, B.; Green, Jane

doi:10.1016/s0272-6386(96)90513-2

Cited by 124 publications

(146 citation statements)

References 27 publications

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“…4 Renal abnormalities can be a major cause of morbidity and mortality in BBS. 20 The renal phenotype is variable but classically manifests with cystic tubular disease and anatomical malformations. 18 Urinary concentration defects are prevalent even in patients with near-normal renal function and no major cysts.…”

Section: Clinical Overviewmentioning

confidence: 99%

Bardet–Biedl syndrome

2012

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Section: Clinical Overviewmentioning

confidence: 99%

Bardet–Biedl syndrome

2012

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“…In BBS adults, obesity is usually associated with the trunk and proximal limbs and less frequently the face, 18 but it has also been described as diffuse and nonspecific in distribution during early life. 19 Croft et al 20,21 compared affected individuals with obligate carriers and first-degree relatives in BBS families and raised the possibility that BBS heterozygotes are predisposed to obesity. Indeed, they estimated that approximately 3% of all severely overweight white males in the USA carry a single BBS gene.…”

Section: Introductionmentioning

confidence: 99%

Bardet–Biedl syndrome 1 genotype and obesity in the Newfoundland population

Fan

Rahman

Peddle³

et al. 2004

Int J Obes

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BACKGROUND AND OBJECTIVES:Obesity is one of the primary clinical features of Bardet-Biedl Syndrome (BBS), a genetically heterogeneous disorder that is usually inherited as an autosomal recessive trait. It has been suggested that heterozygous carriers of BBS are predisposed to obesity. We set out to identify the common mutation in BBS1 families from southwest Newfoundland and to examine the relationship between this mutation and obesity in the general population. METHODS AND SUBJECTS:We genotyped BBS1 families from Newfoundland to determine the nature of the mutation causing BBS in this population. We then screened 200 obese individuals (average body mass index (BMI) ¼ 37.9 kg/m 2 ; average waist to hip ratio ¼ 0.935; average waist ¼ 113.8 cm) and 200 ethnically matched, unrelated, controls (average BMI ¼ 25.0 kg/m 2 ; average waist to hip ratio ¼ 0.896; average waist ¼ 86.9 cm) from the same geographic region for the presence of this mutation. RESULTS: All affected members of the six Newfoundland BBS1 families were homozygous for the most common BBS1 mutation (M390R). This mutation was found in the heterozygous state in three of the 200 obese individuals and also in three of the 200 matched controls. CONCLUSIONS: The high frequency of BBS1 in Newfoundland appears to be the result of a founder event. Our data do not support the hypothesis that the M390R BBS1 mutation plays a significant role in the frequency of obesity in the general public in Newfoundland.

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“…Laurence-Moon syndrome has been recently separated from the Bardet-Biedl syndrome. 1 It is a very rare condition with some features of Bardet-Biedl syndrome but characterized additionally by spastic paralysis and ataxia. Six cardinal features are now recognized for the Bardet-Biedl syndrome 2 : obesity (92%), retinitis pigmentosa (92%), mental retardation (82%), polydactyly (72%), hypogenitalism (67%), and renal disease (approximately 100%).…”

Section: Neonatal Bardet-biedl Syndrome With Renal Anomalies and Hydrmentioning

confidence: 99%

“…Other occasional features include heart disease (7%) and diabetes mellitus (32% of patients by 55 years of age). 1 Complications of the Bardet-Biedl syndrome are often severe. Almost all patients are blind by 30 years of age.…”

Section: Neonatal Bardet-biedl Syndrome With Renal Anomalies and Hydrmentioning

confidence: 99%

“…Approximately 25% of patients are dead by 44 years of age; renal failure is frequently the cause of death. 1 The characteristic renal findings include calyceal clubbing and blunting in the absence of reflux; fetal lobulation; small kidneys with parenchymal thinning; bilateral, multiple renal calyceal diverticula (multidiverticular renal dysplasia); and a histologic glomerulopathy and tubulo-interstitial nephropathy. [3][4][5] Complications of multidiverticular renal dysplasia include infection and stone formation.…”

Section: Neonatal Bardet-biedl Syndrome With Renal Anomalies and Hydrmentioning

confidence: 99%

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Special Imaging Casebook

Mj²

1999

J Perinatol

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A 3800-gm girl was born at term at a rural hospital after an uncomplicated pregnancy to a 28-year-old gravida 1, para 1 mother. The infant was noted to have bilateral postaxial polydactyly of the hands. Because of a bulging membrane at the vaginal introitus, perforation of a presumed hymen was performed with copious return of fluid. The child was then transferred to this hospital for further evaluation and treatment. Further evaluation, including fundoscopic examination, revealed a pigmented retinopathy. Sonography of the kidneys ( Figure 1) and a voiding cystourethrogram and genitogram ( Figure 2) were also performed.

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The importance of renal impairment in the natural history of bardet-biedl syndrome

Cited by 124 publications

References 27 publications

Bardet–Biedl syndrome

Bardet–Biedl syndrome

Bardet–Biedl syndrome 1 genotype and obesity in the Newfoundland population

Special Imaging Casebook

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