目的 探讨新疆地区经典型苯丙酮尿症(phenylketonuria,PKU)患儿的治疗现状,分析影响新疆地区经典型PKU患儿治疗依从性的因素。方法 选取2011年1月-2015年1月在新疆医科大学第一附属医院新生儿疾病筛查中心筛查确诊及临床延迟发现的PKU患儿33例为研究对象,依据确诊时间分为新筛患儿组(14例)和延迟发现患儿组(19例),采用查阅病历和电话随访的方式对PKU患儿治疗状况进行调查,采用单因素及多因素Logistic回归法及χ²检验分析影响新疆地区PKU患儿治疗依从性的因素。结果 家庭年收入在平均水平以下是PKU患儿治疗依从性低的危险因素(OR=2.815,P<0.05),少数民族(维、回、哈)是PKU患儿治疗依从性低的危险因素(OR为1.332~2.240,P<0.05),新筛患儿的治疗依从性高于延迟发现患儿(P<0.05)。不同性别间PKU患儿治疗依从性比较,差异无统计学意义(P>0.05)。结论 家庭年收入(平均水平以下)、民族(少数民族)和确诊时间(延迟发现患儿)是影响新疆地区经典型PKU患儿治疗依从性的重要因素;扩大新生儿疾病筛查覆盖范围,为少数民族患儿配备少数民族医生,是提高患儿治疗依从性的一种方法。

Objective To study the treatment status of phenylketonuria (PKU) children,and analyze the factors influencing phenylketonuria childre's treatment compliance in Xinjiang area. Methods Totally 33 PKU children who were screened and delayed to be treated in the Neonatal Screening Center of the First Affiliated Hospital of Xinjiang Medical University from January 2011 to January 2015 were enrolled in this study.On the basis of the time of diagnosis,they were divided into the new screening group (14 cases) and delayed group (19 cases),the PKU children's treatment status was investigated by reading medical records and telephone follow up,univariate and multivariate Logistic regression analysis and χ² test were used to analyze the factors influencing PKU children's treatment compliance in Xinjiang area. Results The family income below average level (OR=2.815,P<0.05),and the national minority(Uyghur,Hui,Kazak) (OR:1.332~2.240,P<0.05)were risk factors influencing PKU children's treatment compliance.The PKU children's treatment compliance of new screening was higher than that delayed to be treated (P<0.05).There was no significance difference in treatment compliance between PKU children with different genders (P>0.05). Conclusions The family income(below average level),the national minority(Uyghur,Hui,Kazak)and the time of diagnosis (delayed to be treated) are important factors influencing PKU children's treatment compliance.Expanding the coverage of neonatal disease screening and equipping with a doctor of ethnic minorities for ethnic minority patients,is one way to improve the treatment compliance.