title: Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
abstract: OBJECTIVE
  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 relationships between genotypes and clinical phenotypes.
  
  
  METHODS
  This clinical study was performed in a national cohort of 33 BBS patients, 22 men and 11 women, all aged >16 years (mean age 26.3 years).
  
  
  RESULTS
  Renal abnormalities, including impairment of renal function and signs of chronic interstitial nephropathy of dysplastic nature, were documented in 82% of the patients. Cardiovascular evaluations revealed that this group of young patients had significant cardiovascular risk factors. Hypertension was found in >30% of the patients and hyperlipidemia in >60%, and almost 50% had other metabolic abnormalities. Overt diabetes was present in only 6%. With regard to genotype-phenotype correlation, patients with a mutation in the BBS6, BBS10, or BBS12 gene (10 of 33 patients) had more severe renal disease.
  
  
  CONCLUSIONS
  Our study results confirm the frequent occurrence of renal involvement in patients with BBS, underscore the high risk of cardiovascular disease in these patients, and provide new information on a possible genotype-phenotype correlation.
authors.affiliation: Service de Néphrologie, Dialyse et Transplantation Rénale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Imhoff
authors.forename: Vincent
authors.initials: V
authors.lastname: Marion
authors.forename: Corinne
authors.initials: C
authors.lastname: Stoetzel
authors.forename: Myriam
authors.initials: M
authors.lastname: Durand
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder
authors.forename: Sabine
authors.initials: S
authors.lastname: Sigaudy
authors.forename: Pierre
authors.initials: P
authors.lastname: Sarda
authors.forename: Christian P
authors.initials: CP
authors.lastname: Hamel
authors.forename: Christian
authors.initials: C
authors.lastname: Brandt
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
authors.forename: Bruno
authors.initials: B
authors.lastname: Moulin
mesh_terms: D000328:Adult; D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000503:physiopathology; D002318:Cardiovascular Diseases / Q000209:etiology*; D015331:Cohort Studies; D003404:Creatinine / Q000652:urine; D005260:Female; D005838:Genotype; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging / Q000503:physiopathology; D007674:Kidney Diseases / Q000209:etiology*; D008297:Male; D008869:Microtubule-Associated Proteins; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D014463:Ultrasonography
chemical_list: C464790:Bbs1 protein, human; D008869:Microtubule-Associated Proteins; D011506:Proteins; D003404:Creatinine; D005947:Glucose