Tauber Maïthé, Diene Gwenaelle, Molinas Catherine
Centre de référence du syndrome de Prader-Willi, Hôpital des Enfants, CHU Toulouse, France, 2Axe Pédiatrique du CIC 9302/INSERM. Hôpital des Enfants, Toulouse, France, 3INSERM U1043, Centre de Physiopathologie de Toulouse Purpan, UPS, France, E-mail:
Centre de référence du syndrome de Prader-Willi, Hôpital des Enfants, CHU Toulouse, France, INSERM UMR 1027-Université Toulouse III Hôpital Paule de Viguier, Toulouse, France.
Pediatr Endocrinol Rev. 2018 Sep;16(Suppl 1):91-99. doi: 10.17458/per.vol16.2018.tdm.ghpraderwilli.
The European Marketing Authorization for recombinant human growth hormone (rhGH) in children with Prader-Willi syndrome was the first indication for metabolic and body composition effects in children. In the US it is indicated for short stature associated with PWS. Recombinant hGH is the first treatment for the PWS population and radically changed the care of these children by facilitating access to physicians who prescribe rhGH, mainly paediatric endocrinologists, and manage the organization of multidisciplinary care. Recombinant hGH treatment improved linear growth, body composition, and socialization not only in children but also in young adults. The pathophysiology of combined hormonal deficiencies including GH is starting to be unravelled. We now have to focus on co-morbidities that are not modified by rhGH treatment, such as feeding disorders and behaviour problems, to truly change the life of patients. The transition of care from adolescents to young adults also remains a challenge.
重组人生长激素（rhGH）在普拉德-威利综合征儿童中的欧洲市场授权是儿童代谢和身体成分效应的首个适应证。在美国，它被用于治疗与普拉德-威利综合征相关的身材矮小。重组hGH是针对普拉德-威利综合征人群的首个治疗方法，通过方便接触开rhGH处方的医生（主要是儿科内分泌学家）并管理多学科护理的组织，从根本上改变了对这些儿童的护理。重组hGH治疗不仅改善了儿童的线性生长、身体成分和社交能力，也改善了年轻成年人的这些方面。包括生长激素缺乏在内的多种激素联合缺乏的病理生理学开始被揭示。我们现在必须关注rhGH治疗无法改善的合并症，如喂养障碍和行为问题，以真正改变患者的生活。从青少年到年轻成年人的护理过渡仍然是一项挑战。
