增长激素缺乏和相关疾病:对因果关系,诊断和治疗的洞察
Mehul Dattani1, Michael Preece
1Institute of Child Health, University College London, London WC1N 1EH, UK.
Lancet (London, England)
|June 15, 2004
概括
最近的分子生物学进展发现了与生长激素缺乏和相关综合征相关的新型基因突变. 增长激素治疗正在改变各种疾病的内分泌学,尽管成本效益需要进一步研究.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 分子遗传学 分子遗传学
- 生殖内分泌学 生殖内分泌学
背景情况:
- 分子生物学的进步已经确定了涉及内分泌疾病的新基因.
- 在诊断和治疗身高异常方面取得了重大进展.
研究的目的:
- 审查最近在下垂体激素缺乏的遗传基础上的进展.
- 讨论儿童和成人内分泌学中生长激素治疗的不断变化的格局.
主要方法:
- 关于分子生物学发现的文献综述.
- 对内分泌学当前诊断和治疗策略的分析.
主要成果:
- 鉴定与孤立生长激素缺乏,结合 pituitary 激素缺乏和 septoptic 失塑症相关的新基因突变.
- 现在,生长激素治疗是成年人生长激素缺乏症和特定儿科疾病的标准治疗方法.
结论:
- 基因发现正在完善对 pituitary 发育和功能的理解.
- 增长激素治疗已经显著扩大,但其成本效益概况需要持续评估.
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