儿童Prader-Willi综合征常见远期并发症表现形式的研究进展

Research Progress in Manifestations of Common Long-term Complications of Prader-Willi Syndrome in Children

Prader-Willi综合征(PWS)属于基因病,系因印迹基因缺陷而引发的多系统异常综合征,临床表现不一,以下丘脑功能障碍相关表现多见,处于不同发育阶段的PWS临床症状不同,远期存在多系统受累。临床医师若能及早发现患儿的异常体征并结合基因检测将有助于疾病的及时确诊,进而积极给予临床干预及家庭护理,可推迟并发症的发生,从而有助于改善患儿的预后。因PWS患儿存在多方面问题,表现出的体征并非完全一致,期待未来研发针对不同患儿的个体化治疗方案以提高患儿的生存质量。

Prader-Willi syndrome(PWS)belongs to genetic disease,which is a multi-system abnormal syndrome caused by imprinted gene defects.Its clinical manifestations are different,and the hypothalamic dysfunction related are more commonly seen.PWS patients at different developmental stages have different clinical symptoms and long-term multi-system involvement.If the clinicians can find the abnormal signs of the children as early as possible and combine with genetic testing,it will help to diagnose the disease in time,and then actively give clinical intervention and home care,which can delay the occurrence of complications and improve the prognosis of the patients.Because PWS patients have many problems,and the signs of different patients are not completely consistent,it′s expected to develop individualized treatment in the future to improve their quality of life.