Moix Gil Eugènia, Giménez-Palop Olga, Caixàs Assumpta
Facultad de Medicina, Unidad Docente Parc Taulí, Universitat Autònoma de Barcelona, Barcelona, España.
Servicio de Endocrinología y Nutrición, Hospital Universitari Parc Tauli, , Sabadell, España.
Endocrinol Diabetes Nutr (Engl Ed). 2018 Apr;65(4):229-236. doi: 10.1016/j.endinu.2018.01.006. Epub 2018 Mar 3.
The Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of expression of the paternal alleles in región 15q11.2-q13. Obesity and hormonal deficiencies, especially of growth hormone (GH), are the most important signs from the therapeutic viewpoint. Recombinant GH (rGH) is effective in children and represents the mainstay in treatment; by contrast, little evidence in available in adult patients.
To review the reported evidence on the beneficial and adverse effects of treatment with rGH in children and adults.
A review was made of 62 original articles published between 2000 and 2017 using the PubMed database.
In pediatric and adult PWS, rGH improves body morphology and composition, physical performance, cognition, psychomotor development, respiratory function, and quality of life with few adverse effects.
Treatment with rGH is effective and safe and improves quality of life in both children and adults with PWS.
普拉德-威利综合征（PWS）是一种罕见的遗传性疾病，由15号染色体长臂1区11.2带至13带（15q11.2-q13）父本等位基因表达缺失引起。从治疗角度来看，肥胖和激素缺乏，尤其是生长激素（GH）缺乏，是最重要的症状。重组生长激素（rGH）对儿童有效，是治疗的主要手段；相比之下，成年患者的相关证据较少。
综述已报道的关于rGH治疗儿童和成人的有益和不良影响的证据。
使用PubMed数据库对2000年至2017年间发表的62篇原创文章进行综述。
在儿童和成人PWS中，rGH可改善身体形态和组成、身体机能、认知、精神运动发育、呼吸功能和生活质量，且不良反应较少。
rGH治疗对患有PWS的儿童和成人有效且安全，可改善其生活质量。
