Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Horm Res Paediatr. 2013;80(6):477-90. doi: 10.1159/000355658. Epub 2013 Nov 27.
Growth disorders resulting in short stature are caused by a wide range of underlying pathophysiological processes. To improve height many of these conditions are treated with recombinant human growth hormone (rhGH). However, substantial inter-individual variability in growth response both in the short and long-term is recognised. Over the last decade, disease-specific growth prediction models have been developed that the clinician can use to define a child's potential response to rhGH and to optimise starting and maintenance doses of rhGH. These models, however, are not able to predict all the variations in treatment response. There has, therefore, been recent interest in using genetic information to contribute to the evaluation of responses to rhGH, including high-throughput technologies for assessing DNA markers (genome) and mRNA transcripts (transcriptome) as pharmacogenomic tools. This review will focus on how these pharmacogenomic approaches are being applied to growth disorders.
导致身材矮小的生长障碍是由广泛的潜在病理生理过程引起的。为了增高，许多这类疾病都采用重组人生长激素（rhGH）治疗。然而，人们已经认识到，无论是短期还是长期，生长反应都存在很大的个体间差异。在过去十年中，已经开发出了针对特定疾病的生长预测模型，临床医生可以使用这些模型来定义儿童对 rhGH 的潜在反应，并优化 rhGH 的起始和维持剂量。然而，这些模型并不能预测治疗反应的所有变化。因此，最近人们对利用遗传信息来评估 rhGH 反应产生了兴趣，包括用于评估 DNA 标记（基因组）和 mRNA 转录本（转录组）的高通量技术，这些技术可用作药物基因组学工具。本综述将重点介绍这些药物基因组学方法在生长障碍中的应用。
