A review of Prader-Willi syndrome.

IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Jaapa-Journal of the American Academy of Physician Assistants Pub Date : 2025-02-01 Epub Date: 2024-01-23 DOI:10.1097/01.JAA.0000000000000079
Seth Metzler, Gina R Brown
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引用次数: 0

Abstract

Abstract: Prader-Willi syndrome is a rare and complex genetic disorder with multiple physical and behavioral characteristics, affecting endocrine, metabolic, and neurologic systems and producing a plethora of medical complications. Early identification and diagnosis are paramount to providing timely and appropriate interventions to improve patient outcomes. Treatment should focus on neonatal feeding and growth, followed by hormonal therapy for hypothalamic dysfunction, and should then be directed at the prevention and treatment of obesity and obesity-related complications. Effective treatment requires a comprehensive multidisciplinary approach.

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普瑞德-威利综合征综述。
摘要:普瑞德-威利综合征是一种罕见的、复杂的遗传性疾病,具有多种身体和行为特征,影响内分泌、代谢和神经系统,并产生大量的医学并发症。早期识别和诊断对于提供及时和适当的干预措施以改善患者预后至关重要。治疗应侧重于新生儿的喂养和生长,其次是下丘脑功能障碍的激素治疗,然后应针对肥胖和肥胖相关并发症的预防和治疗。有效的治疗需要综合的多学科方法。
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来源期刊
CiteScore
1.20
自引率
9.10%
发文量
310
期刊介绍: ​​​JAAPA is the peer-reviewed clinical journal of the American Academy of Physician Assistants (AAPA). Published for more than 25 years, its mission is to support the ongoing education and advancement of physician assistants (PAs) by publishing current information and research on clinical, health policy, and professional issues. Published monthly, JAAPA''s award-winning editorial includes: -Clinical review articles (with AAPA-approved Category I CME in each issue)- Case reports- Clinical departments- Original health services research- Articles on issues of professional interest to PAs
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