| Popis: |
Lavinia Caba,1,* Laura Florea,2,* Elena Emanuela Braha,3,* Valeriu Vasile Lupu,4,* Eusebiu Vlad Gorduza1,* 1Department of Mother and Child Medicine – Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania; 2Department of Nephrology - Internal Medicine, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, Iasi, Romania; 3“C. I. Parhon” National Institute of Endocrinology, Bucharest, Romania; 4Department of Mother and Child Medicine – Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania*These authors contributed equally to this workCorrespondence: Lavinia Caba, Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, Iasi, 700115, Romania, Email lavinia.caba@umfiasi.roAbstract: 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.Keywords: Bardet-Biedl syndrome, genetic heterogeneity, multidisciplinary, management |
