Carney综合征1例家系调查并文献复习

Carney complex:family investigation of a case and literature review

Carney综合征(CNC)是一种罕见的常染色体显性遗传综合征,以皮肤黏膜色素沉着病变,心脏、皮肤的黏液瘤及多发性内分泌肿瘤为特征。我国CNC患者平均诊断年龄为(27.81±14.37)岁,男女比例相当,皮肤黏膜色素斑、肾上腺病变所致的非ACTH依赖性皮质醇增多症及心脏黏液瘤占比最高;CNC的每一种病症或肿瘤均需要单独治疗,手术是最主要的治疗方式;由于CNC的病变涵盖多个器官系统,随年龄增加临床症状逐步积累显现,密切随访将有助于改善预后。CNC通常认为是由位于17q22-24处编码蛋白激酶A(PKA)的RⅠα调节亚基(PRKAR1A)基因的失活突变或大量缺失引起的,新近发现PRKACA及PRKACB基因也与该病相关。我国患者基因检测率偏低,大部分突变位点在国外相关数据库中尚未报道。

Objective Carney complex(CNC)is a rare autosomal dominant syndrome characterized by pigmentation of skin mucosa,myxoma of heart and skin and multiple endocrine tumors.The average age of diagnosis of CNC patients in China was(27.81±14.37)years old,and the proportion of male and female was similar.The highest proportion of patients with non ACTH dependent cortisol and cardiac myxoma caused by skin mucosal pigment spots and adrenal lesions was found.Each disease or tumor of CNC needs to be treated separately,and surgery is the most important treatment.As the lesions of CNC cover multiple organ systems,clinical symptoms gradually accumulate and show with age.Close follow-up will help to improve the prognosis.It is generally believed that CNC is caused by inactivation or deletion of the RⅠαregulatory subunit(Prkar1a)gene,which encodes protein kinase A(PKA)at 17q22-24.Recently,prkaca and prkacb genes are also associated with the disease.Most of the mutation sites have not been reported in foreign databases.