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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

dc.rights.licenseopenen_US
dc.contributor.authorDOLLFUS, Helene
dc.contributor.authorLILIEN, Marc R
dc.contributor.authorMAFFEI, Pietro
dc.contributor.authorVERLOES, Alain
dc.contributor.authorMULLER, Jean
dc.contributor.authorBACCI, Giacomo M
dc.contributor.authorCETINER, Metin
dc.contributor.authorVAN DEN AKKER, Erica L T
dc.contributor.authorGRUDZINSKA PECHHACKER, Monika
dc.contributor.authorTESTA, Francesco
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorSTOKMAN, Marijn F
dc.contributor.authorSIMONELLI, Francesca
dc.contributor.authorGOURONC, Aurélie
dc.contributor.authorGAVARD, Amélie
dc.contributor.authorVAN HAELST, Mieke M
dc.contributor.authorKOENIG, Jens
dc.contributor.authorROSSIGNOL, Sylvie
dc.contributor.authorBERGMANN, Carsten
dc.contributor.authorZACCHIA, Miriam
dc.contributor.authorLEROY, Bart P
dc.contributor.authorMOSBAH, Héléna
dc.contributor.authorVAN EERDE, Albertien M
dc.contributor.authorMEKAHLI, Djalila
dc.contributor.authorSERVAIS, Aude
dc.contributor.authorPOITOU, Christine
dc.contributor.authorVALVERDE, Diana
dc.date.accessioned2024-11-26T14:16:09Z
dc.date.available2024-11-26T14:16:09Z
dc.date.issued2024-07-31
dc.identifier.issn1476-5438en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/203492
dc.description.abstractEnFour European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age. Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical Primary and Secondary features, as well as positive or negative molecular diagnosis. This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals. For paediatricians, developmental anomalies can be at the forefront for diagnosis (such as polydactyly) but can require specific care, such as for associated neuro developmental disorders. For ophthalmology, the early onset retinal degeneration requires ad hoc functional and imaging technologies and specific care for severe visual impairment. For endocrinology, among other manifestations, early onset obesity and its complications has benefited from better evaluation of eating behaviour problems, improved lifestyle programs, and from novel pharmacological therapies. Kidney and urinary track involvements warrants lifespan attention, as chronic kidney failure can occur and early management might improve outcome. This consensus recommends revised diagnostic criteria for BBS that will ensure certainty of diagnosis, giving robust grounds for genetic counselling as well as in the perspective of future trials for innovative therapies.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.title.enBardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
dc.title.alternativeEur J Hum Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41431-024-01634-7en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed39085583en_US
bordeaux.journalEuropean Journal of Human Geneticsen_US
bordeaux.page1347-1360en_US
bordeaux.volume32en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue11en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04805137
hal.version1
hal.date.transferred2024-11-26T14:16:15Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
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