Backeljauw Philippe, Bang Peter, Clayton Peter E, Geffner Mitchell, Woods Kathryn A
Cincinnati Children's Hospital Medical Center, OH, 45229-3039, USA.
Pediatr Endocrinol Rev. 2010 Feb;7 Suppl 1:154-71.
With the availability of recombinant human (rh) IGF-I as a new therapeutic agent, the criteria for diagnosis and strategies for management of growth deficiencies continue to evolve. This supplement provides a clinical update on molecular, therapeutic, and metabolic aspects of the management of short stature associated with insulin-like growth factor-I deficiency (IGFD). Several distinct, single-gene defects associated with primary IGFD now have been identified. The first section of this supplement focuses on selecting certain patients for specific genetic testing of the GH/IGF-I axis, based on previously obtained clinical and biochemical assessments. Management of short stature in children responding poorly to rhGH and definitions of a good and poor response are discussed in the next section. In addition, the authors further address different methods to help practicing clinicians predict and assess GH response, review the effect of rhGH on final adult height, and discuss the role IGF-I may have in the therapeutic approach to short stature. Finally, the metabolic aspects related to the treatment of short stature are discussed in the third part of this supplement.
随着重组人生长激素(rh)IGF-I作为一种新型治疗药物的出现,生长缺陷的诊断标准和管理策略也在不断发展。本增刊提供了关于胰岛素样生长因子-I缺乏症(IGFD)相关矮小症管理的分子、治疗和代谢方面的临床最新进展。目前已鉴定出几种与原发性IGFD相关的不同单基因缺陷。本增刊的第一部分重点是根据先前获得的临床和生化评估,选择某些患者进行生长激素/IGF-I轴的特定基因检测。下一部分讨论了对rhGH反应不佳的儿童矮小症的管理以及良好和不良反应的定义。此外,作者进一步探讨了帮助临床医生预测和评估生长激素反应的不同方法,回顾了rhGH对最终成人身高的影响,并讨论了IGF-I在矮小症治疗方法中可能发挥的作用。最后,本增刊的第三部分讨论了与矮小症治疗相关的代谢方面。