上海交通大学学报（医学版）

›› 2010, Vol. 30 ›› Issue (7): 856-.

• 综述 • 上一篇    下一篇

Kallmann综合征致病基因与诊疗研究进展

沙艳伟, 李 朋, 综述；李 铮, 审校   

  1. 上海交通大学医学院 仁济医院泌尿外科 上海市男科学研究所, 上海 200001
  • 出版日期:2010-07-25 发布日期:2010-07-26
  • 通讯作者: 李 铮, 电子信箱: doc.zheng.li@gmail.com。
  • 作者简介:沙艳伟(1977—), 男, 硕士生；电子信箱: shayanwei928@126.com。现在厦门市妇幼保健院 生殖医学科工作(361003)。
  • 基金资助:

    上海市科委国际合作项目(08410701700)

Research progress on pathogenesis-related genes and diagnosis and treatment of Kallmann syndrome

SHA Yan-wei, LI Peng, reviewer；LI Zheng, reviser   

  1. Department of Urology, Shanghai Institute of Andrology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China
  • Online:2010-07-25 Published:2010-07-26
  • Supported by:

    Shanghai Science and Technology Committee Foundation, 08410701700

PDF (PC)

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摘要：

Kallmann综合征为低促性腺激素型性腺功能减退症，常伴有嗅觉丧失或减退。该综合征为先天性遗传性疾病，与成纤维细胞生长因子受体1(FGFR1)、成纤维细胞生长因子8(FGF8)、前动力蛋白受体2基因（PROKR2）、前动力蛋白2基因（PROK2）和KAL1等致病基因相关。文章就Kallmann综合征致病相关基因、临床诊疗、基因型与表型的关系以及基因蛋白生物学活性、功能和相互作用等方面的研究进展进行综述。

关键词: Kallmann综合征, 基因, 诊断, 治疗

Abstract:

Kallmann syndrome (KS) is a genetically and clinically heterogeneous disease, which is characterised by hypogonadotropic hypogonadism complicated with anosmia. Up till now, five pathogenesisrelated genes of fibroblast growth factor receptor 1(FGFR1), fibroblast growth factor 8 (FGF8), prokineticin receptor 2 gene (PROKR2), prokineticin 2 gene (PROK2) and KAL1 have been identified. The research progress on biological activity, function and phenotype-genotype correlations of Kallmann syndrome related proteins is reviewed in this paper, and the diagnosis and treatment of Kallmann syndrome are also introduced.

Key words: Kallmann syndrome, gene, diagnosis, treatment