Miller Jennifer L, Strong Theresa V, Heinemann Janalee
Department of Pediatrics, Division of Endocrinology, University of Florida College of Medicine, 32607 Gainesville, FL, USA.
Department of Medicine, University of Alabama at Birmingham, 35294 Birmingham, AL, USA.
Diseases. 2015 Jun 3;3(2):78-85. doi: 10.3390/diseases3020078.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the absence of paternally expressed, imprinted genes on chromosome 15q11-13. Individuals with PWS characteristically have poor feeding and lack of appetite in infancy, followed by the development of weight gain and then uncontrolled appetite and lack of satiety, sometime after the age of two. The overwhelming drive to eat is coupled with reduced energy expenditure and decreased caloric requirements, thus, individuals with PWS will become severely obese unless their food intake is strictly controlled. The mechanisms underlying hyperphagia in PWS remain incompletely understood, and to date no drugs have proven effective in controlling appetite. However, clinical trials have started for several medications, which may provide therapeutic options for those with PWS. These medication trials may also provide insight into potential treatments for obesity in the general population. Ideally, these treatments will help alleviate the complex metabolic issues that are part of this syndrome.
普拉德-威利综合征(PWS)是一种神经发育障碍,由15号染色体q11-13区域父源表达的印记基因缺失所致。患有普拉德-威利综合征的个体在婴儿期通常喂养困难且食欲不振,随后在两岁后的某个时间体重开始增加,继而出现食欲失控和饱腹感缺失。强烈的进食欲望伴随着能量消耗减少和热量需求降低,因此,除非严格控制食物摄入量,普拉德-威利综合征患者会变得严重肥胖。普拉德-威利综合征中贪食的潜在机制仍未完全明确,迄今为止,尚无药物被证明对控制食欲有效。然而,针对几种药物的临床试验已经启动,这可能为普拉德-威利综合征患者提供治疗选择。这些药物试验也可能为普通人群肥胖症的潜在治疗方法提供见解。理想情况下,这些治疗方法将有助于缓解该综合征所伴随的复杂代谢问题。