Percy Alan K
a 1530 3rd Avenue South, Civitan International Research Center, Birmingham, AL 35294, USA.
Expert Rev Endocrinol Metab. 2008 May;3(3):327-336. doi: 10.1586/17446651.3.3.327.
Rett syndrome is a relatively rare neurodevelopmental disorder (incidence: approximately one out of 10,000 female births) that reached worldwide prominence in the early 1980s. Owing to its overwhelming predominance in females, Rett syndrome was regarded as a genetic disorder. However, its occurrence is sporadic, with a recurrence risk well below 0.5%. In 1999, confirmation was provided by the demonstration of mutations in the MECP2 gene. At present, more than 95% of females who fulfill consensus criteria for Rett syndrome have a mutation in this gene. Over the past 25 years, understanding of the clinical features and natural history of this unique neurodevelopmental disorder has evolved dramatically. However, large segments of healthcare professionals and the general public still remain relatively uninformed. This review details the clinical picture of Rett syndrome and the diagnostic strategies required, explores the critical medical issues and recent advances in molecular neurobiology, provides an overview of intervention strategies that have been developed to date and sets the stage for future treatment trials as novel, and potentially effective, pharmacologic or molecular interventions become available.
瑞特综合征是一种相对罕见的神经发育障碍（发病率：约为每10000例女性出生中有1例），在20世纪80年代初引起了全球关注。由于其在女性中占绝大多数，瑞特综合征曾被视为一种遗传性疾病。然而，其发病是散发性的，复发风险远低于0.5%。1999年，通过对MECP2基因突变的证实，这一情况得到了确认。目前，超过95%符合瑞特综合征共识标准的女性在该基因中存在突变。在过去的25年里，对这种独特神经发育障碍的临床特征和自然史的认识有了巨大的发展。然而，大部分医疗保健专业人员和公众仍然了解相对较少。本综述详细介绍了瑞特综合征的临床表现和所需的诊断策略，探讨了关键的医学问题和分子神经生物学的最新进展，概述了迄今为止已开发的干预策略，并为未来的治疗试验奠定了基础，因为新的、可能有效的药物或分子干预措施即将出现。
