[Bardet-Biedl syndrome]. / Le syndrome de Bardet-Biedl.
Ann Endocrinol (Paris)
; 69(6): 463-71, 2008 Dec.
Article
em Fr
| MEDLINE
| ID: mdl-19019343
ABSTRACT
Bardet-Biedl syndrome (BBS) is a ciliopathy causing multivisceral abnormalities. Its prevalence in Europe is from 1/125,000 to 1/175,000. This disorder is defined by a combination of clinical signs obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appearing after several years of evolution. Individual clinical phenotype is highly variable. Most signs are present in a majority of patients but only pigmentary retinopathy is constant after infancy. There are many other associated minor clinical signs including diabetes, blood hypertension, congenital cardiopathy or Hirschsprung disease. This broad clinical spectrum is associated to a great genetic heterogeneity, with mainly an autosomal recessive transmission and, sometimes cases of oligogenism. To date, mutations in 12 different genes (BBS1 to BBS12) are responsible for this phenotype. These genes code for proteins involved in the development and function of primary cilia. Absent or non functional BBS proteins affect cilia in certain organs such as kidney or eye. However, some symptoms are still not clearly related to cilia dysfunction. BB syndrome has to be recognized because a molecular diagnosis is possible and will lead to familial genetic counseling and possibly prenatal diagnosis. Patients with BBS will need a multidisciplinary medical care. The renal abnormalities are the main life-threatening features because they can lead to end-stage renal failure and renal transplantation. Retinal dystrophy leading to progressive vision loss, moderate mental retardation, and obesity will affect social life of these patients.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Bardet-Biedl
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
Fr
Revista:
Ann Endocrinol (Paris)
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
França