Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.
J Multidiscip Healthc
; 15: 2153-2167, 2022.
Article
en En
| MEDLINE
| ID: mdl-36193191
ABSTRACT
Bardet - Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary anomalies, and kidney disease. The onset of clinical manifestations is variable which makes the diagnosis difficult in some patients. Because of the multiple system involvement, a multidisciplinary approach is necessary. The purpose of this review is to provide monitoring and management directions for a better approach to these patients.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
J Multidiscip Healthc
Año:
2022
Tipo del documento:
Article
País de afiliación:
Rumanía