上海交通大学学报（医学版）

›› 2010, Vol. 30 ›› Issue (5): 508-.

• 专题报道（肾上腺疾病） • 上一篇    下一篇

ACTH 非依赖性Cushing综合征的分子生物学研究进展

蒋怡然, 综述；王卫庆, 审校   

  1. 上海交通大学 医学院瑞金医院内分泌代谢病科 上海市内分泌代谢病科研究所 上海市内分泌代谢病临床医学中心, 上海 200025
  • 出版日期:2010-05-25 发布日期:2010-05-28
  • 通讯作者: 王卫庆, 电子信箱: wqingw@hotmail.com。
  • 作者简介:蒋怡然（1983—）, 女, 住院医师, 硕士生；电子信箱: rainy0409@hotmail.com。
  • 基金资助:

    国家自然科学基金（30771018）

Research advance in molecular biochemistry of ACTH-independent Cushing syndrome

JIANG Yi-ran, reviewer；WANG Wei-qing, reviser   

  1. Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025, China
  • Online:2010-05-25 Published:2010-05-28
  • Supported by:

    National Natural Science Foundation of China, 30771018

PDF (PC)

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摘要：

促肾上腺皮质激素（ACTH）非依赖性Cushing综合征包括肾上腺皮质腺瘤、肾上腺皮质癌和肾上腺皮质结节样增生，其发病机制主要与基因突变（GNAS1、PRKAR1A和PDE11A）、异位受体表达、WNT通路异常激活及抑癌基因杂合丢失等诸多因素相关，该文就上述发病机制作一综述。

关键词: 促肾上腺皮质激素非依赖性Cushing综合征, GNAS1基因, PRKAR1A基因, PDE11A基因, 异位受体, WNT通路

Abstract:

Adrenocorticotropic hormone (ACTH)-independent Cushing syndrome includes adrenocortical adenoma, adrenocortical carcinoma and adrenocortical nodular hyperplasia, the  pathogenesis of which is related to genetic mutations (GNAS1, PRKAR1A and PDE11A), expression of aberrant hormone receptors, dysfunction of WNT pathway and loss of heterozygosity of tumor suppressor gene. The pathogenesis mentioned above is introduced in this article.

Key words: adrenocorticotropic hormone-independent Cushing syndrome, GNAS1gene, PRKAR1A gene；PDE11A gene, aberrant hormone receptors, WNT pathway