TY - JOUR
T1 - Bardet-Biedl syndrome improved diagnosis criteria and management
T2 - Inter European Reference Networks consensus statement and recommendations
AU - Dollfus, Hélène
AU - Lilien, Marc R.
AU - Maffei, Pietro
AU - Verloes, Alain
AU - Muller, Jean
AU - Bacci, Giacomo M.
AU - Cetiner, Metin
AU - van den Akker, Erica L.T.
AU - Grudzinska Pechhacker, Monika
AU - Testa, Francesco
AU - Lacombe, Didier
AU - Stokman, Marijn F.
AU - Simonelli, Francesca
AU - Gouronc, Aurélie
AU - Gavard, Amélie
AU - van Haelst, Mieke M.
AU - Koenig, Jens
AU - Rossignol, Sylvie
AU - Bergmann, Carsten
AU - Zacchia, Miriam
AU - Leroy, Bart P.
AU - Mosbah, Héléna
AU - Van Eerde, Albertien M.
AU - Mekahli, Djalila
AU - Servais, Aude
AU - Poitou, Christine
AU - Valverde, Diana
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/11
Y1 - 2024/11
N2 - Four 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.
AB - Four 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.
UR - http://www.scopus.com/inward/record.url?scp=85200043054&partnerID=8YFLogxK
U2 - 10.1038/s41431-024-01634-7
DO - 10.1038/s41431-024-01634-7
M3 - Review article
C2 - 39085583
AN - SCOPUS:85200043054
SN - 1018-4813
VL - 32
SP - 1347
EP - 1360
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 11
ER -