Banaszak-Ziemska Magdalena, Niedziela Marek
Poznan University of Medical Sciences 2nd Chair of Paediatrics Department of Paediatric Endocrinology and Rheumatology.
Endokrynol Pol. 2017;68(6):682-691. doi: 10.5603/EP.a2017.0060.
Short stature is the main problem that paediatric endocrinologists have to grapple with. Endocrine disorders account for only 5% of patients with short stature, but this is still one of the most common causes of reports to the endocrine clinic and hospitalisation in the endocrine department. A properly functioning growth hormone/insulin-like growth factor (GH/IGF) axis is one of the most important factors in proper growth. A lot of genetic defects in this axis lead to syndromes marked by impaired growth, like Laron syndrome, muta-tions in the STAT5B, insulin-like growth factor 1 (IGF1), and insulin-like growth factor 1 receptor (IGF1R) and mutations in the acid labile subunit (ALS). Two proteases important for the proper functioning of the GH/IGF axis: pregnancy-associated plasma protein-A (PAPP-A) and pregnancy-associated plasma protein-A2 (PAPP-A2), have been described. The first description of the new syndrome of growth failure associated with mutation in the PAPP-A2 gene was given by Andrew Dauber et al. This review evaluates the current data concerning PAPP-A2 function, and particularly the effect of PAPP-A2 mutation on growth.
身材矮小是儿科内分泌学家必须应对的主要问题。内分泌疾病仅占身材矮小患者的5%，但这仍是向内分泌门诊报告及内分泌科住院治疗的最常见原因之一。生长激素/胰岛素样生长因子（GH/IGF）轴功能正常是正常生长的最重要因素之一。该轴上的许多基因缺陷会导致以生长受损为特征的综合征，如拉伦综合征、信号转导及转录激活因子5B（STAT5B）、胰岛素样生长因子1（IGF1）和胰岛素样生长因子1受体（IGF1R）的突变以及酸性不稳定亚基（ALS）的突变。已描述了对GH/IGF轴正常功能很重要的两种蛋白酶：妊娠相关血浆蛋白-A（PAPP-A）和妊娠相关血浆蛋白-A2（PAPP-A2）。安德鲁·道伯等人首次描述了与PAPP-A2基因突变相关的生长衰竭新综合征。本综述评估了有关PAPP-A2功能的当前数据，尤其是PAPP-A2突变对生长的影响。
