Chen Christina, Visootsak Jeannie, Dills Shelley, Graham John M
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Clin Pediatr (Phila). 2007 Sep;46(7):580-91. doi: 10.1177/0009922807299314. Epub 2007 May 23.
Prader-Willi syndrome, the first known human genomic imprinting disorder, is one of the most common micro-deletion syndromes. Prader-Willi syndrome is caused by the absence of certain paternally inherited genes on the long arm of chromosome 15, resulting in a complete absence of the active copy of the genetic information in this region. It is most commonly known for its food-related characteristics of hyperphagia, food-seeking behavior, and consequent obesity. Primary care physicians play an important role in the care of children with Prader-Willi syndrome, from recognizing the presenting signs and symptoms at its various stages to understanding their unique medical, developmental, behavioral, and dietary issues. They can also serve as a valuable source of support and advocacy for the family. This article reviews the current state of knowledge about Prader-Willi syndrome and discusses up-to-date understanding of the management of this condition.
普拉德-威利综合征是首个被发现的人类基因组印记障碍疾病，也是最常见的微缺失综合征之一。普拉德-威利综合征是由15号染色体长臂上某些父系遗传基因的缺失所致，导致该区域遗传信息的活性拷贝完全缺失。它最广为人知的是与食物相关的特征，如食欲亢进、觅食行为以及随之而来的肥胖。初级保健医生在普拉德-威利综合征患儿的护理中发挥着重要作用，从识别其各个阶段出现的体征和症状，到了解他们独特的医学、发育、行为和饮食问题。他们还可以成为家庭宝贵的支持和倡导者来源。本文回顾了关于普拉德-威利综合征的当前知识状况，并讨论了对该疾病管理的最新认识。
