[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].

Autor:	Cetiner M; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Bergmann C; Human genetic diagnostics, Medical Genetics Mainz, Mainz, Germany., Bettendorf M; Pediatric Endocrinology and Diabetes, Heidelberg University Hospital Department of General Pediatrics Pediatric Neurology Metabolic Diseases Gastroenterology and Nephrology, Heidelberg, Germany., Faust J; Psychiatry and psychotherapy, Max-Planck-Institute for Psychiatry, München, Germany., Gäckler A; Department of Nephrology, University Hospital Essen, Essen, Germany., Gillissen B; Bardet Biedl syndrome Working Group, PRO RETINA Deutschland e V, Bonn, Germany., Hansen M; KFH Kidney Center for Children and Adolescents, Clementine Children's Hospital - Dr Christ'sche Foundation, Frankfurt am Main, Germany., Kerber M; Bardet Biedl syndrome Working Group, PRO RETINA Deutschland e V, Bonn, Germany., Klaus G; KFH Kidney Center for Children and Adolescents, University Hospitals Giessen and Marburg Campus Giessen, Marburg, Germany., König J; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Kühlewein L; Department of Ophthalmology, University Hospital Tübingen Clinic of Ophthalmology, Tübingen, Germany., Oh J; Pediatric Nephrology, University Medical Center Hamburg-Eppendorf Department of Pediatrics, Hamburg, Germany., Richter-Unruh A; Department of Pediatric Endocrinology and Diabetology, University Hospital of the Ruhr University Bochum, Bochum, Germany., von Schnurbein J; Department of Pediatrics and Adolescent Medicine, Ulm University Hospital, Ulm, Germany., Wabitsch M; Department of Pediatrics and Adolescent Medicine, Ulm University Hospital, Ulm, Germany., Weihrauch-Blüher S; Department of Pediatrics I, University Hospital Halle, Halle, Germany., Pape L; Department of Pediatrics II, University Hospital Essen, Essen, Germany.
Jazyk:	němčina
Zdroj:	Klinische Padiatrie [Klin Padiatr] 2024 Sep; Vol. 236 (5), pp. 269-279. Date of Electronic Publication: 2024 Mar 08.
DOI:	10.1055/a-2251-5382
Abstrakt:	Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive multisystem disease. The pathophysiological origin is a dysfunction of the primary cilium. Clinical symptoms are heterogeneous and variable: retinal dystrophy, obesity, polydactyly, kidney abnormalities, hypogenitalism and developmental delays are the most common features. By the approval of the melanocortin 4 receptor agonist setmelanotide, a drug therapy for BBS-associated hyperphagia and obesity can be offered for the first time. Hyperphagia and severe obesity represent a considerable burden and are associated with comorbidity and increased mortality risk. Due to the limited experience with setmelanotide in BBS, a viable comprehensive therapy concept is to be presented. Therapy decision and management should be conducted in expert centers. For best therapeutic effects with setmelanotide adequate information of the patient about the modalities of the therapy (daily subcutaneous injection) and possible adverse drug events are necessary. Furthermore, the involvement of psychologists, nutritionists and nursing services (support for the application) should be considered together with the patient. The assessment of therapy response should be carried out with suitable outcome measurements and centrally reported to an adequate register. Competing Interests: M.C., C.B., J.K., J.O., L.P., J.vS., L.P. haben während der letzten 3 Jahre ein Beraterhonorar von der Firma Rhythm Pharmaceuticals erhalten, M.C., L.P. haben während der letzten 3 Jahre Vortragshonorare von der Firma Rhythm Pharmaceuticals erhalten. M.C. erhielt während der letzten 3 Jahre Studienunterstützung von der Firma Rhythm Pharmaceuticals. M.B., J.F., A.G., B.G., M.H., M.K., G.K., L.K., A.RU, M.W., S.WB geben an, dass kein Interessenkonflikt besteht. (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)
Databáze:	MEDLINE
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