摘要
心脏-泌尿生殖器综合征(CUGS;OMIM#618280)是与MYRF基因突变相关的常染色体显性遗传病,涉及多器官和系统异常.其主要临床表现包括内外生殖器异常,先天性心脏缺陷和眼部异常,此外还表现为肺部异常、横膈膜问题、身材矮小、语言障碍、智力障碍和运动障碍以及肠旋转不良等.临床诊断标准尚无共识,主要基于临床和遗传学结果综合分析.其治疗为多学科管理,包括心脏病学、内分泌学、遗传学、眼科、泌尿学、心理学和综合康复管理,以最大化功能、减少并发症,改善生活质量.本文综述了心脏-泌尿生殖器综合征的相关研究进展.
Abstract
Cardiac-urogenital syndrome(CUGS;OMIM#618280)is an autosomal dominant genetic disorder associ-ated with the MYRF gene mutation,involving multiple organ and system abnormalities.Its main clinical manifestations in-clude internal and external genital abnormalities,congenital heart defects,and eye abnormalities,in addition to lung abnor-malities,diaphragm problems,short stature,speech disorders,intellectual and movement disorders,and intestinal malrotation.There is no consensus on clinical diagnostic criteria,which are mainly based on a comprehensive analysis of clinical and ge-netic results.Its treatment is managed in a multidisciplinary manner,including cardiology,endocrinology,genetics,ophthal-mology,urology,psychology,and integrated rehabilitation management to maximize function,reduce complications,and im-prove quality of life.This article reviews the research progress of cardiac-urogenital syndrome.
基金项目
浙江省重点研发计划(2021C03094)
国家卫生健康委科学研究项目(WKJ-ZJ-2409)
维普
万方数据