期刊文献+

海神综合征的诊治进展

Progress in Diagnosis and Treatment of Proteus Syndrome
下载PDF
导出
摘要 海神综合征是一种罕见的先天性错构综合征,以肢体不对称的、不成比例的过度生长、结缔组织痣、血管畸形等为形态学特点。其发病机制为位于染色体14q323的AKT1基因发生嵌合性体细胞突变。该病的罕见程度及临床表型变化之多给其诊断和治疗带来了极大困难。目前国际通用的诊断标准条目繁杂,在临床应用时可操作性较差。在治疗方面,手术只能改善过度生长的症状,而不能阻止疾病进展。本文综述了海神综合征的诊断标准、治疗原则及围术期处理,并根据笔者的临床经验,提出了高度疑诊为海神综合征的形态学表现,强调对病变组织进行基因检测是诊断的金标准,靶向治疗可能是治疗海神综合征的最佳方法。 Proteus syndrome is a rare congenital hamartomatous syndrome characterized by the asymmetric and disproportionate overgrowth of limbs,emergence of connective tissue nevi,epidermal nevi,ysregulated adipose tissue,and vascular malformations.The Proteus syndrome is caused by mosaicism of somatic activating mutation in the AKT1 gene which locates at chromosome 14q323.This syndrome is extremely rare,making it difficult to diag-nose.The most commonly used diagnostic criteria are too complicated to be used in clinical practice.Surgery can par-tially alleviate the clinical symptoms of overgrowth,but it cant inhibit the progression of the disease.This article summarizes the diagnostic criteria,treatment principles,and perioperative managements for Proteus syndrome in the world.The article proposes the highly suspected morphological manifestations of Proteus syndrome was based on clini-cal experiences of the author.The article emphasizes using genetic detection of pathological tissue as the gold stand-ard for diagnosis,and suggests targeted therapy as the optimal treatment for Proteus syndrome.
作者 殷悦涵 孙丽颖 田文 YIN Yuehan;SUN Liying;TIAN Wen(Department of Hand Surgery,Clinical and Research Center for Congenital Hand Deformities and Rare Diseases,Beijing Jishuitan Hospital,Capital Medical University,Beijing 100035,China)
出处 《罕见病研究》 2023年第4期626-632,共7页 Journal of Rare Diseases
基金 国家重点研发计划(2022ZD0116000) 北京市属医院科研培育项目(PX2022013)。
关键词 海神综合征 AKT1基因 诊断 治疗 Proteus syndrome AKT1 gene diagnosis treatment
  • 相关文献

参考文献4

二级参考文献5

共引文献22

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部