The Biology of Stature.

The Biology of Stature.
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DOI:
10.1016/j.jpeds.2016.02.068
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发表时间:
2016-06
期刊:
The Journal of pediatrics
影响因子:
--
通讯作者:
Baron J
Baron J
中科院分区:
其他
文献类型:
--
作者:
Jee YH;Baron J

文献摘要

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大多数儿科医生都适应患者的线性生长(身高增加)。每次就诊时,应仔细测量并绘制孩子的身高。然后,临床医生可以仔细检查时间模式,如果线性生长出现异常,则启动调查以发现潜在的问题。尽管我们对患者的身高增长非常感兴趣,但线性增长本身通常被认为是一个“黑匣子”,一个受营养、激素、遗传和整体健康状况调节的神秘过程。最近,在理解线性生长的生物学基础方面取得了令人兴奋的进展。我们对为什么线性生长在婴儿期快速,然后在童年期减慢,在青春期加速,然后再次减慢并在成年期停止的原因有了新的认识。我们现在更好地了解了激素、营养和全身性疾病调节线性生长的机制。也许最令人兴奋的全基因组关联(GWA)研究和全外显子组测序已经开始识别出许多调节线性生长的新基因,这些基因突变后会导致儿童生长障碍。为了了解这些重要的新发现及其对我们患者的影响,我们必须深入了解线性生长的黑匣子。正如我们只能从肺生物学的角度来理解儿童的呼吸生理学一样,我们也只能从潜在的生物过程——生长板软骨形成的角度来理解线性生长和生长障碍。
Most pediatricians are attuned to their patients’ linear growth (height gain). At each visit, the child's height should be carefully measured and plotted. The clinician can then scrutinize the temporal pattern, and, if the linear growth appears abnormal, initiate an investigation to uncover the underlying problem. Despite this close interest in our patients’ statural gains, linear growth itself is often considered as a “black box”, a mysterious process regulated by nutrition, hormones, genetics, and overall health. Recently, there have been exciting advances in understanding the biological basis of linear growth. We have gained new insights as to why linear growth is rapid in infancy, then slows in childhood, accelerates in adolescence, then slows again and ceases by adulthood. We now understand much better the mechanisms by which hormones, nutrition, and systemic illness regulate linear growth. Perhaps most exciting, genome-wide association (GWA) studies and whole-exome sequencing have begun to identify numerous novel genes that regulate linear growth, and, when mutated, cause childhood growth disorders.To understand these important new findings and their implications for our patients, we must look inside the black box of linear growth. Just as we can only understand children's respiratory physiology in terms of lung biology, so too we can only understand linear growth and growth disorders in terms of the underlying biological process, growth plate chondrogenesis.