上海交通大学学报（医学版）

上海交通大学学报（医学版）

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外胚层发育不良分子机制及子代出生缺陷的研究进展

顾本宏 1, 2，田汝辉 1，李铮 1   

  1. 1. 上海交通大学附属第一人民医院泌尿外科中心男科/盆底尿失禁外科，辅助生殖医学科；上海交通大学泌尿外科研究所男性健康评估中心；上海市生殖医学重点实验室，上海 200080；2.上海市浦东新区中医医院泌尿外科，上海 201299
  • 出版日期:2017-02-28 发布日期:2017-02-28
  • 作者简介:顾本宏（1975—），男，主治医师，学士；电子信箱：benghg@icloud.com。
  • 基金资助:

    国家重点基础研究发展计划（“973”计划）（2012CB96603）；上海市新兴前沿技术（SHDC12015122）

Research progress in molecular mechanisms of ectodermal dysplasias and birth defects of offspring

GU Ben-hong1, 2, TIAN Ru-hui1, LI Zheng1   

  1. 1. Department of Andrology/Pelvic Floor Dysfunction, Department of Assisted Reproductive Technology, Institute of Urology Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Key Lab of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai 200080, China; 2. Department of Urology, Pudong New-area Traditional Chinese Medicine Hospital , Shanghai 201299, China
  • Online:2017-02-28 Published:2017-02-28
  • Supported by:

    National Key Basic Research Program of China（973 Program）, 2012CB96603; Frontier Technology Project of Shanghai, SHDC12015122

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摘要：

外胚层发育不良（ED）是一组具有一系列外胚层起源器官发育异常的遗传异质性疾病，通常侵犯皮肤、汗腺、毛发、指趾甲和牙齿。此外，外胚层还发育形成中枢神经系统、外周神经系统、眼、耳、鼻以及外分泌腺、乳腺和垂体。ED可导致不同程度的出生缺陷，影响子代健康。该文就近年来对ED的分子研究及临床治疗进展作一综述。

关键词: 外胚层发育不良；出生缺陷；核因子&kappa, B

Abstract:

The ectodermal dysplasias (ED), sharing common clinical manifestations, are a large group of heterogenous hereditary disorders, characterized by alterations of structures of ectodermal origin, such as skin, sweat glands, hair, nails and teeth. Besides these organs, central nervous system, peripheral
nervous system, eyes, ears, and nose, as well as eccrine, mammary, and pituitary glands are all derived from the ectoderm. To varying degrees, the offsprings inherited of ED have birth defects and their health will be influenced. This paper reviews recent results of molecular researches and clinical
therapy improvements about ED.

Key words: ectodermal dysplasias, birth defect, NF-κB