Department of Paediatrics, Medical School, University of Pécs, H-7623 Pécs, Hungary.
National Laboratory for Human Reproduction, Szentágothai Research Centre, University of Pécs, H-7623 Pécs, Hungary.
Nutrients. 2022 May 6;14(9):1950. doi: 10.3390/nu14091950.
Prader-Willi syndrome (PWS) is a complex genetic disorder which involves the endocrine and neurologic systems, metabolism, and behavior. The aim of this paper is to summarize current knowledge on dietary management and treatment of PWS and, in particular, to prevent excessive weight gain. Growth hormone (GH) therapy is the recommended standard treatment for PWS children, because it improves body composition (by changing the proportion of body fat and lean body mass specifically by increasing muscle mass and energy expenditure), linear growth, and in infants, it promotes psychomotor and IQ development. In early childhood, the predominant symptom is hyperphagia which can lead to early onset, severe obesity with different obesity-related comorbidities. There are several studies on anti-obesity medications (metformin, topiramate, liraglutide, setmelanotide). However, these are still limited, and no widely accepted consensus guideline exists concerning these drugs in children with PWS. Until there is a specific treatment for hyperphagia and weight gain, weight must be controlled with the help of diet and exercise. Below the age of one year, children with PWS have no desire to eat and will often fail to thrive, despite adequate calories. After the age of two years, weight begins to increase without a change in calorie intake. Appetite increases later, gradually, and becomes insatiable. Managing the progression of different nutritional phases (0-4) is really important and can delay the early onset of severe obesity. Multidisciplinary approaches are crucial in the diagnosis and lifelong follow-up, which will determine the quality of life of these patients.
普拉德-威利综合征（PWS）是一种涉及内分泌和神经系统、代谢和行为的复杂遗传疾病。本文旨在总结 PWS 的饮食管理和治疗的最新知识，特别是预防体重过度增加。生长激素（GH）治疗是 PWS 儿童的推荐标准治疗方法，因为它可以改善身体成分（通过改变体脂肪和瘦体重的比例，特别是通过增加肌肉质量和能量消耗）、线性生长，并且在婴儿中，可以促进精神运动和智商发育。在幼儿期，主要症状是食欲过盛，这可能导致早期、严重肥胖，并伴有不同的肥胖相关合并症。有几项关于抗肥胖药物（二甲双胍、托吡酯、利拉鲁肽、setmelanotide）的研究。然而，这些研究仍然有限，对于这些药物在 PWS 儿童中的应用，尚无广泛接受的共识指南。在有针对食欲过盛和体重增加的具体治疗方法之前，必须通过饮食和运动来控制体重。在一岁以下，尽管摄入了足够的热量，患有 PWS 的儿童没有进食的欲望，往往会发育不良。两岁后，体重开始增加，而热量摄入没有变化。食欲增加较晚，逐渐增加，变得无法满足。管理不同营养阶段（0-4 岁）的进展非常重要，可以延迟严重肥胖的早期发生。多学科方法对于诊断和终身随访至关重要，这将决定这些患者的生活质量。
