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

Autor: Dollfus H; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. dollfus@unistra.fr.; Université de Strasbourg, UMRS_1112, Strasbourg, France. dollfus@unistra.fr., Lilien MR; ERKNet Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands., Maffei P; Endo-ERN Department of Medicine (DIMED), 3rd Medical Clinic, Padua University, Padua, Italy., Verloes A; ERN-ITHACA Department of Genetics, AP-HP - Université de Paris; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert Debré, Paris, France., Muller J; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Bacci GM; ERN-EYE Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy., Cetiner M; ERKNet Children's Hospital, Pediatrics II, University of Essen, Essen, Germany., van den Akker ELT; Endo-ERN Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands., Grudzinska Pechhacker M; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Testa F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Lacombe D; ERN-ITHACA Department of Medical Genetics, CHU Bordeaux, INSERM Unit_1211, Laboratory 'Rare Diseases: Genetics and Metabolism', University of Bordeaux, Bordeaux, France., Stokman MF; ERKNet Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Simonelli F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Gouronc A; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Université de Strasbourg, UMRS_1112, Strasbourg, France.; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Gavard A; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., van Haelst MM; ERN-ITHACA Department of Human Genetics, Section Clinical Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Koenig J; ERKNet University Children's Hospital Muenster, Muenster, NRW, Germany., Rossignol S; Endo-ERN Département de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Bergmann C; Department of Medicine IV, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Zacchia M; ERKNet Division of Nephrology, Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Leroy BP; ERN-EYE Department of Ophthalmology & Department of Head & Skin, Ghent University Hospital and Ghent University, Ghent, Belgium.; Center for Cellular and Molecular Therapeutics and Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mosbah H; Endo-ERN Department of Endocrinology, Diabetology & Nutrition, University Hospital of Poitiers, Poitiers, France., Van Eerde AM; ERKNet Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mekahli D; ERKNet PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Servais A; ERKNet Department of Kidney and Metabolic Diseases, Transplantation and Clinical Immunology, Necker Hospital, AP-HP, Centre of Reference for the French Nationwide MARHEANetwork (CNR-MARHEA), Paris, France.; Inserm U1163, Imagine Institute, Paris, France., Poitou C; Endo-ERN Centre de Référence pour les obésités rares (CRMR PRADORT), Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Sorbonne Université, INSERM, Nutrition & Obesities: Systemic Approaches Research Group (NutriOmics), Paris, France., Valverde D; CINBIO, Universidad de Vigo, Grupo de Investigación en Enfermedades Raras, Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Vigo, Spain.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1347-1360. Date of Electronic Publication: 2024 Jul 31.
DOI: 10.1038/s41431-024-01634-7
Abstrakt: 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.
Competing Interests: Competing interests The development of this work was made without external financial support from industries involved in the manufacturing of therapies for BBS. Competing interests of members of the guideline development group have been recorded in writing and addressed. HD has consulted for Novartis, Rhythm Pharmaceuticals, Jansen Pharmaceutical, GenSight Biologics and Sparing Vision. JK, DL, AG, MMVH and JM have consulted for Rhythm Pharmaceuticals. EVDA’s institute was the recipient of a research grant from Rhythm Pharmaceuticals. MC is a principal investigator for the RM-IMC-901 study (a Registry of Patients with Biallelic Proopiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1), or Leptin Receptor (LEPR) Deficiency Obesity, or Bardet-Biedl Syndrome (BBS), Treated with Setmelanotide) and received payments for lectures, expert testimony and consulting fees and study support from Rhythm Pharmaceuticals; MC also received payments for lectures from Canon Medical Systems. CB is the medical and managing director of Medizinische Genetik Mainz and Limbach Genetics. BPL has consulted for Novartis, Jansen Pharmaceutical, GenSight Biologics and Sparing Vision. CP has consulted for Rhythm Pharmaceuticals and Novo Nordisk. SR has consulted for Rhythm Pharmaceuticals, Sandoz and Novo Nordisk. MRL, PM, AV, GMB, MGP, FT, MFS, FS, AG, MZ, HM, AMVE, DM, AS, DV, have no competing interests to declare.
(© 2024. The Author(s).)
Databáze: MEDLINE
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