Khan M J, Gerasimidis K, Edwards C A, Shaikh M G
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
Human Nutrition, School of Medicine, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Pediatr Obes. 2018 Jan;13(1):3-13. doi: 10.1111/ijpo.12177. Epub 2016 Nov 10.
Obesity is the most common cause of metabolic complications and poor quality of life in Prader-Willi syndrome (PWS). Hyperphagia and obesity develop after an initial phase of poor feeding and failure to thrive. Several mechanisms for the aetiology of obesity in PWS are proposed, which include disruption in hypothalamic pathways of satiety control resulting in hyperphagia, aberration in hormones regulating food intake, reduced energy expenditure because of hypotonia and altered behaviour with features of autism spectrum disorder. Profound muscular hypotonia prevents PWS patients from becoming physically active, causing reduced muscle movements and hence reduced energy expenditure. In a quest for the aetiology of obesity, recent evidence has focused on several appetite-regulating hormones, growth hormone, thyroid hormones and plasma adipocytokines. However, despite advancement in understanding of the genetic basis of PWS, there are contradictory data on the role of satiety hormones in hyperphagia and data regarding dietary intake are limited. Mechanistic studies on the aetiology of obesity and its relationship with disease pathogenesis in PWS are required. . In this review, we focused on the available evidence regarding mechanisms of obesity and potential new areas that could be explored to help unravel obesity pathogenesis in PWS.
肥胖是普拉德-威利综合征（PWS）中代谢并发症和生活质量低下的最常见原因。在最初喂养困难和生长发育迟缓阶段之后，会出现食欲亢进和肥胖。人们提出了几种PWS肥胖病因的机制，包括下丘脑饱腹感控制途径中断导致食欲亢进、调节食物摄入的激素异常、由于肌张力减退导致能量消耗减少以及具有自闭症谱系障碍特征的行为改变。严重的肌肉张力减退使PWS患者无法进行体育活动，导致肌肉运动减少，从而能量消耗降低。为了探寻肥胖的病因，最近的证据集中在几种食欲调节激素、生长激素、甲状腺激素和血浆脂肪细胞因子上。然而，尽管对PWS的遗传基础的理解有所进展，但关于饱腹感激素在食欲亢进中的作用的数据相互矛盾，且关于饮食摄入的数据有限。需要对PWS肥胖病因及其与疾病发病机制的关系进行机制研究。在本综述中，我们聚焦于关于肥胖机制的现有证据以及有助于揭示PWS肥胖发病机制的潜在新探索领域。
