| Kallmann综合征致病基因与诊疗研究进展 |
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| 引用本文： | 沙艳伟,李朋. Kallmann综合征致病基因与诊疗研究进展[J]. 上海交通大学学报(医学版), 2010, 30(7): 856-860 |
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| 作者姓名： | 沙艳伟 李朋 |
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| 作者单位： | 1. 厦门市妇幼保健院生殖医学科,361003
2. 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 |
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| 基金项目： | 上海市科委国际合作项目 |
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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.
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| 关 键 词： | Kallmann综合征 基因 诊断 治疗 |
Research progress on pathogenesis-related genes and diagnosis and treatment of Kallmann syndrome |
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| SHA Yan-wei,LI Peng. Research progress on pathogenesis-related genes and diagnosis and treatment of Kallmann syndrome[J]. Journal of Shanghai Jiaotong University:Medical Science, 2010, 30(7): 856-860 |
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| Authors: | SHA Yan-wei LI Peng |
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| Affiliation: | Department of Urology, Shanghai Institute of Andrology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China |
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| 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. |
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| Keywords: | Kallmann syndrome gene diagnosis treatment |
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