伴PRKAR1A基因突变的Carney综合征1例并文献复习
Carney Syndrome with PRKAR1A Mutation: A Case Report and Literature Review
DOI: 10.12677/ACM.2021.116413, PDF,   
作者: 李 洁, 吕文山, 王 芳, 陈 颖, 李海铭, 王忠超*：青岛大学附属医院内分泌与代谢性疾病科，山东 青岛；王 静：青岛大学附属医院肿瘤放疗科，山东 青岛
关键词: 卡尼综合征；心脏粘液瘤；原发性色素性结节性肾上腺皮质疾病；PRKAR1A基因；手术；Carney Complex； Cardiac Myxoma； Primary Pigmented Nodular Adrenocortical Disease； PRKAR1A Gene； Surgery
摘要: 卡尼综合征(Carney Complex, CNC)是一种常染色体显性遗传疾病，其临床表现多样化，涉及多个组织和器官，在临床中易被漏诊或误诊。现报道1例有关CNC的罕见病例，该患者于2013~2020年在我院收住治疗，以PRKAR1A基因突变、反复发生心脏粘液瘤为特点，并伴有高血压、糖尿病、皮肤黏液瘤等多种并发症。其双胞胎哥哥，因“CNC心脏粘液瘤”术后并发症去世。
Abstract: Carney syndrome (Carney Complex, CNC) is an autosomal dominant genetic disease with diversified clinical manifestations, involving multiple tissues and organs, and it is easy to be missed or misdiagnosed in clinical practice. A rare case of CNC is reported. The patient was admitted to our hospital for treatment from 2013 to 2020, and was characterized by PRKAR1A gene mutations, and recurrent cardiac myxoma, accompanied by hypertension, diabetes, skin myxoma and other complications. His twin brother died of postoperative complications from “CNC heart myxoma”.
文章引用：李洁, 王静, 吕文山, 王芳, 陈颖, 李海铭, 王忠超. 伴PRKAR1A基因突变的Carney综合征1例并文献复习[J]. 临床医学进展, 2021, 11(6): 2844-2850. https://doi.org/10.12677/ACM.2021.116413

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