Krasińska Agata, Skowrońska Bogda
Department of Pediatric Diabetes and Obesity Poznan University of Medical Sciences.
Pediatr Endocrinol Diabetes Metab. 2017;23(2):101-106. doi: 10.18544/PEDM-23.02.0080.
Prader-Willi Syndrome is a genetic condition caused by an abnormality of chromosome 15, mostly resulting from a deletion.The prevalence of syndrome in Europe has been reported between 1 in 8,000 to 1 in 45,000 births. Characteristic features of the syndrome include hypotonia, short stature, psychomotor development delay, hypogonadism and progressive, life-threatening obesity. Treatment of Prader-Willi Syndrome consists of intensive rehabilitation, psychologicalcare, speech therapy and also, if patient is fulfilling appropriate criteria, growth hormone treatment. An extremely important element of therapy is also properly planned and implemented nutritional management. Adequate diet prevents the malnutrition in the first stage of life and the development of excessive weight in subsequent years. The aim of this article is to provide practical and accurate guidance on nutritional management and diet therapy for physicians and nutritionists who work with children, adolescents and adults with Prader-Willi Syndrome.
普拉德-威利综合征是一种由15号染色体异常引起的遗传性疾病，主要由基因缺失导致。据报道，该综合征在欧洲的发病率为每8000至45000例出生中有1例。该综合征的特征包括肌张力减退、身材矮小、精神运动发育迟缓、性腺功能减退以及进行性、危及生命的肥胖。普拉德-威利综合征的治疗包括强化康复、心理护理、言语治疗，此外，如果患者符合适当标准，还包括生长激素治疗。治疗的一个极其重要的因素也是合理规划和实施营养管理。适当的饮食可防止生命早期出现营养不良，并避免在随后几年体重过度增加。本文旨在为治疗患有普拉德-威利综合征的儿童、青少年和成人的医生和营养师提供关于营养管理和饮食治疗的实用且准确的指导。
