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典型病例:从患者到实验室再到患者的拉伦综合征(原发性生长激素抵抗)

Prismatic cases: Laron syndrome (primary growth hormone resistance) from patient to laboratory to patient.

作者信息

Laron Z

机构信息

Pediatric Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center of Israel, Tel Aviv.

出版信息

J Clin Endocrinol Metab. 1995 May;80(5):1526-31. doi: 10.1210/jcem.80.5.7744997.

Abstract

Clinical investigations started in 1958 of a group of children with characteristics resembling GH deficiency, but who had extremely high levels of plasma GH, led to the description of the syndrome of primary GH resistance or insensitivity (Laron syndrome), the discovery of its molecular defect, and the clinical application of biosynthetic insulin-like growth factor-I. This syndrome is a unique model that enables study of the GH receptor, its signal transduction, and the comparison between the effects of GH and insulin-like growth factor-I.

摘要

1958年开始了针对一组具有类似生长激素缺乏特征但血浆生长激素水平极高的儿童的临床研究,这导致了原发性生长激素抵抗或不敏感综合征(拉伦综合征)的描述,其分子缺陷的发现以及生物合成胰岛素样生长因子-I的临床应用。该综合征是一个独特的模型,能够用于研究生长激素受体、其信号转导以及生长激素与胰岛素样生长因子-I作用之间的比较。

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