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

IF 1.2 4区 医学 Q3 PEDIATRICS
Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2024-03-08 DOI:10.1055/a-2251-5382
Metin Cetiner, Carsten Bergmann, Markus Bettendorf, Johanna Faust, Anja Gäckler, Bernarda Gillissen, Matthias Hansen, Maximilian Kerber, Günter Klaus, Jens König, Laura Kühlewein, Jun Oh, Annette Richter-Unruh, Julia von Schnurbein, Martin Wabitsch, Susann Weihrauch-Blüher, Lars Pape
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引用次数: 0

Abstract

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.

[改善巴尔德-比德尔综合征多食相关肥胖症患者的护理和治疗方案]。
巴尔德-比德尔综合征(BBS)是一种罕见的常染色体隐性多系统疾病。其病理生理起源是原发性纤毛功能障碍。临床症状多种多样:视网膜营养不良、肥胖、多指畸形、肾脏异常、生殖能力低下和发育迟缓是最常见的特征。黑色素皮质素 4 受体激动剂 setmelanotide 获得批准后,首次可以对 BBS 相关性多食症和肥胖症进行药物治疗。吞咽过多和严重肥胖是一个相当大的负担,与合并症和死亡风险增加有关。由于塞美拉诺肽治疗 BBS 的经验有限,因此需要提出一种可行的综合治疗理念。治疗决策和管理应在专家中心进行。为了使塞美拉诺肽达到最佳治疗效果,必须向患者充分告知治疗方式(每日皮下注射)和可能出现的药物不良反应。此外,还应考虑让心理学家、营养学家和护理服务人员(为应用提供支持)与患者共同参与。应通过适当的结果测量来评估治疗反应,并向适当的登记册集中报告。
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来源期刊
Klinische Padiatrie
Klinische Padiatrie 医学-小儿科
CiteScore
1.10
自引率
0.00%
发文量
135
审稿时长
6-12 weeks
期刊介绍: Das Forum für wissenschaftliche Information in der Kinderheilkunde ausgewählte Originalarbeiten aus allen Bereichen der Pädiatrie Visite: Ihr Forum für interessante Krankengeschichten und außergewöhnliche Kasuistiken aktuelle Fortschritte in Diagnostik und Therapie jährliche Schwerpunkthefte: Ergebnisse der pädiatrischen Onkologie plus Medizin und Markt topaktuelle Informationen aus der Industrie
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