Backeljauw P, Bang P, Dunger D B, Juul A, Le Bouc Y, Rosenfeld R
Division of Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
J Pediatr Endocrinol Metab. 2010 Jan-Feb;23(1-2):3-16. doi: 10.1515/jpem.2010.23.1-2.3.
Deficiency of insulin-like growth factor-I (IGF-I) results in growth failure. A variety of molecular defects have been found to underlie severe primary IGF-I deficiency (IGFD), in which serum IGF-I concentrations are substantially decreased and fail to respond to GH therapy. Identification of more patients with primary or secondary IGFD is likely with investigative and diagnostic progress, particularly in the assessment of children with idiopathic short stature. Diagnosis of IGFD requires accurate and reliable IGF-I assays, adequate normative data for reference, and knowledge of IGF-I physiology for proper interpretation of data. Recombinant human IGF-I (rhIGF-I) treatment improves stature in patients with severe primary IGFD, and has also been shown to improve glycaemic control and insulin sensitivity in patients with severe insulin resistance. Ongoing studies of patients receiving rhIGF-I will allow further evaluation of the clinical utility of this treatment, with concurrent increase in our understanding of IGF-I and conditions of IGFD.
胰岛素样生长因子-I(IGF-I)缺乏会导致生长发育迟缓。已发现多种分子缺陷是严重原发性IGF-I缺乏症(IGFD)的基础,在这种疾病中,血清IGF-I浓度显著降低,且对生长激素治疗无反应。随着研究和诊断的进展,尤其是在对特发性矮小儿童的评估中,可能会发现更多原发性或继发性IGFD患者。IGFD的诊断需要准确可靠的IGF-I检测方法、足够的参考标准数据以及了解IGF-I生理学知识以便正确解读数据。重组人生长激素(rhIGF-I)治疗可改善严重原发性IGFD患者的身高,并且已证明还可改善严重胰岛素抵抗患者的血糖控制和胰岛素敏感性。对接受rhIGF-I治疗患者的持续研究将进一步评估这种治疗的临床实用性,同时增进我们对IGF-I和IGFD病症的了解。