心脏-泌尿生殖器综合征研究进展

Overviews of cardiac-urogenital syndrome

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。

Cardiac-urogenital syndrome(CUGS;OMIM#618280) is an autosomal dominant genetic disorder associated with the MYRF gene mutation,involving multiple organ and system abnormalities.Its main clinical manifestations include internal and external genital abnormalities,congenital heart defects,and eye abnormalities,in addition to lung abnormalities,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 genetic results.Its treatment is managed in a multidisciplinary manner,including cardiology,endocrinology,genetics,ophthalmology,urology,psychology,and integrated rehabilitation management to maximize function,reduce complications,and improve quality of life.This article reviews the research progress of cardiac-urogenital syndrome.