生长激素治疗在遗传综合征患者中的促生长作用以外的影响:文献系统评价。
The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.
机构信息
Department of Pediatrics and Endocrinology, Medical University of Warsaw, 02-091 Warsaw, Poland.
出版信息
Int J Mol Sci. 2024 Sep 22;25(18):10169. doi: 10.3390/ijms251810169.
Recombinant human growth hormone therapy (rhGH) has been widely accepted as the safe treatment for short stature in children with such genetic syndromes as Prader-Willi syndrome and Turner or Noonan syndrome. Some patients with short stature and rare genetic syndromes are treated with rhGH as growth hormone-deficient individuals or as children born small for their gestational age. After years of experience with this therapy in syndromic short stature, it has been proved that there are some aspects of long-term rhGH treatment beyond growth promotion, which can justify rhGH use in these individuals. This paper summarizes the data of a literature review of the effects of rhGH treatment beyond growth promotion in selected genetic syndromes. We chose three of the most common syndromes, Prader-Willi, Turner, and Noonan, in which rhGH treatment is indicated, and three rarer syndromes, Silver-Russel, Kabuki, and Duchenne muscular dystrophy, in which rhGH treatment is not widely indicated. Many studies have shown a significant impact of rhGH therapy on body composition, resting energy expenditure, insulin sensitivity, muscle tonus, motor function, and mental and behavioral development. Growth promotion is undoubtedly the primary benefit of rhGH therapy; nevertheless, especially with genetic syndromes, the additional effects should also be considered as important indications for this treatment.
基因综合征相关矮小患儿接受重组人生长激素(rhGH)治疗已得到广泛认可,例如 Prader-Willi 综合征、Turner 综合征或 Noonan 综合征等。一些身材矮小且患有罕见基因综合征的患者,被当作生长激素缺乏症个体或出生体重较轻的患儿接受 rhGH 治疗。rhGH 治疗在综合征相关矮小症中的应用已有多年,其在促进生长以外的一些长期治疗效果已被证实,这也为这些患者使用 rhGH 提供了依据。本文对 rhGH 治疗除促进生长以外的作用的文献进行了综述,总结了相关数据,这些作用在一些特定基因综合征中存在。我们选择了三种最常见的综合征,即 Prader-Willi 综合征、Turner 综合征和 Noonan 综合征,rhGH 治疗对这些综合征有明确疗效;还选择了三种更罕见的综合征,即 Silver-Russell 综合征、Kabuki 综合征和 Duchenne 肌营养不良症,rhGH 治疗对这些综合征的疗效尚未得到广泛认可。许多研究表明 rhGH 治疗对身体成分、静息能量消耗、胰岛素敏感性、肌肉张力、运动功能以及精神和行为发育都有显著影响。促进生长无疑是 rhGH 治疗的主要获益;但对于基因综合征患者,额外的治疗效果也应被视为该治疗的重要适应证。
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