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内分泌学进展

Advances in endocrinology.

作者信息

Clayton P E, Tillmann V

机构信息

Department of Child Health, University of Manchester, Royal Manchester Children's Hospital, Pendlebury.

出版信息

Arch Dis Child. 1998 Mar;78(3):278-84. doi: 10.1136/adc.78.3.278.

Abstract

Molecular genetics will continue to help us to make precise diagnoses. At present, the expertise to achieve this for a specific disease is often exclusive to one unit with a research interest. It will be important to establish a coordinated approach at a supraregional level to provide molecular diagnosis for rare disorders as a fast reliable clinical service. In addition understanding the molecular mechanisms of disease is likely to direct a search for new treatments. For instance, calcium channel blockers have been used in nesidoblastosis to reduce the hypersecretion of insulin, as a result of the recognition of the role that calcium has in the function of the beta-cell ATP sensitive K+ channel. Although the potential benefits of hGH are now being clearly defined in a range of growth disorders, the treatment is invasive and expensive. It is likely that future endocrine therapeutic developments could include slow release growth hormone preparations, orally active growth hormone mimetics, or even hormone production from an ectopic viral cDNA vector. The next "advances in endocrinology" will also reveal whether leptin will have a therapeutic role in appetite control or even the modulation of pubertal development.

摘要

分子遗传学将继续帮助我们进行精确诊断。目前,针对特定疾病实现这一目标的专业知识通常仅为某个有研究兴趣的单位所独有。在超区域层面建立一种协调一致的方法,以便为罕见疾病提供快速可靠的临床分子诊断服务,这将非常重要。此外,了解疾病的分子机制可能会引导人们寻找新的治疗方法。例如,由于认识到钙在β细胞ATP敏感性钾通道功能中的作用,钙通道阻滞剂已被用于治疗胰岛细胞增殖症,以减少胰岛素的过度分泌。尽管生长激素在一系列生长障碍中的潜在益处目前已得到明确界定,但这种治疗具有侵入性且费用高昂。未来内分泌治疗的发展可能包括缓释生长激素制剂、口服活性生长激素模拟物,甚至是通过异位病毒cDNA载体产生激素。下一个“内分泌学进展”还将揭示瘦素在食欲控制甚至青春期发育调节中是否具有治疗作用。

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