Argente Jesús, Pérez-Jurado Luis A
Department of Pediatrics, Universidad Autónoma de Madrid, Spain; Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain; IMDEA Food Institute, CEIUAM+CSIC, Madrid, Spain.
Genetics Unit, Universitat Pompeu Fabra, Barcelona, Spain; Hospital del Mar Research Institute (IMIM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain; SA Clinical Genetics, Women's and Children's Hospital, University of Adelaide, Adelaide, South Australia, Australia.
Growth Horm IGF Res. 2018 Jun;40:17-19. doi: 10.1016/j.ghir.2018.04.001. Epub 2018 Apr 5.
As a result of our publication of the first patients with short stature due to a mutation in the gene for PAPP-A2 the question, "Why did you continue to study these patients when they were not more than 2 SDS below normal?" has been proposed surprisingly frequently. We would like to communicate our opinions on why these patients were studied and share the experience on how this process took place. In addition, the choice of treatment is also discussed. We believe that this discovery process is a good example of good clinical practice and international collaboration.
由于我们发表了首批因妊娠相关血浆蛋白-A2（PAPP-A2）基因突变导致身材矮小的患者，“当这些患者身高低于正常水平不到2个标准差时，你们为什么还要继续研究他们？”这个问题被频繁地令人惊讶地提了出来。我们想就研究这些患者的原因交流我们的看法，并分享这个过程是如何发生的经验。此外，还讨论了治疗的选择。我们认为这个发现过程是良好临床实践和国际合作的一个很好的例子。
