苯丙酮尿症患者生活质量研究进展

摘要

Phenylketonuria,an autosomal recessive inherited disease characterized by amino acid metabolism abnormality,has been listed as a screening program for neonatal genetic metabolic diseases in China.Eearly screening and treatment can reduce or even avoid the disease,However,delayed intervention can influence social functioning and psychological development.The research of life quality including psychological and social functioning in phenylketonuria patients has atlracted the increasing attention along with the medical model transformation.In order to study quality of life in patients with phenylketonuria,life quality questionnaires have been developed.It reveals that early and long-term treatments can improve the quality of life.The assessment and present condition as well as the impact factors of quality of life in phenylketonuria patients have been reviewed in this article,which have important value to evaluate the quality of life and guide clinical treatments as well as judge the prognosis of patients with phenylketonuria.%苯丙酮尿症是常见的先天性氨基酸代谢缺陷疾病,其遗传方式为常染色体隐性遗传,已经列入我国新生儿遗传代谢病筛查项目.早期筛查的普及和及时的治疗使得患者躯体症状得以改善,但仍会对远期社会功能以及心理发展产生不同程度的影响.随着医疗模式的改变,以心理和社会功能为主要内容的生活质量研究受到关注.目前国内外学者主要采用普适性量表和特异性量表等评估方法研究苯丙酮尿症对生活质量的影响,大部分研究结果表明早期、及时和长程的治疗有利于提高患者的生活质量水平.该文从苯丙酮尿症患者生活质量的评价方法、影响因素以及研究现状进行综述,对了解苯丙酮尿症患者生活质量现状、指导临床治疗以及判断预后具有重要意义.