《第2期苯丙酮尿症患儿特殊奶粉补助项目》临床实施效果  

Clinical effects of Special Milk Powder Subsidizing Program for Children with Phenylketonuria Phase 2

作　　者：廖力慧 朱军[2,3] 余尔玲 邓奎[2] 李琪[2] 刘铮[2] 向良成[2] 李小洪 Liao Lihui;Zhu Jun;Yu Erling;Deng Kui;Li Qi;Liu Zheng;Xiang Liangcheng;Li Xiaohong(Department of Pediatric Neurology,Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China;National Center for Birth Defect Monitoring of China/National Office For Maternal and Child Health Surveillance,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China;Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China;Sichuan Birth Defects Clinical Research Center,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China)

机构地区：[1]四川大学华西第二医院儿童神经科、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [2]四川大学华西第二医院中国出生缺陷监测中心/全国妇幼卫生监测办公室,成都610041 [3]四川大学华西第二医院出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [4]四川大学华西第二医院四川省出生缺陷临床医学研究中心,成都610041

出　　处：《中华妇幼临床医学杂志（电子版）》2022年第3期290-299,共10页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：国家重点研发计划项目(2018YFC1002200)。

摘　　要：目的探讨《第2期苯丙酮尿症(PKU)患儿特殊奶粉补助项目》(以下简称为"PKU项目")的临床实施效果。方法选择2016年5月至2017年4月,PKU项目在11个省、自治区募集生后3个月内被确诊且符合PKU项目纳入与排除标准的190例PKU患儿为研究对象,纳入PKU组。选择与PKU组患儿同地区、同时期于生后3个月内被确诊为PKU,但是未参加PKU项目且愿意接受本调查随访的59例PKU患儿为对照,纳入对照组。PKU组患儿纳入PKU项目统一管理,对患儿监护人进行"线上+线下"PKU相关健康教育宣教,并免费提供PKU治疗所需无苯丙氨酸(Phe)配方奶粉,每个月约6罐(450 g/罐),共计216罐。对于对照组PKU患儿治疗管理,主要参照2010年原国家卫生部颁布的《苯丙酮尿症和先天性甲状腺功能减低症诊治技术规范》相关原则和要求进行。对2组PKU患儿血Phe浓度、体格与智力发育情况定期监测。采用Mann-Whitney U检验、χ^(2)检验、分层χ^(2)检验或Fisher确切概率法,比较2组患儿治疗依从性,血Phe浓度、体格与智力发育监测次数达标率,血Phe浓度控制达标率≥80%者占比、体格与智力发育达到正常标准占比。本研究遵循的程序符合本院伦理委员会规定,通过该伦理委员会审查,并获得批准[审批文号:医学科研2021伦审批第(063)号]。本研究征得2组PKU患儿监护人知情同意,并签署临床研究知情同意书。2组患儿地区分布、性别构成比、城市与农村患儿构成比及入组月龄等一般临床资料比较,差异均无统计学意义(P>0.05)。结果①PKU组患儿治疗完全依从、部分依从、完全不依从占比分别为72.1%(137/190)、25.3%(48/190)、2.6%(5/190),对照组分别为39.0%(23/59)、35.6%(21/59)、25.4%(15/59),PKU组患儿治疗依从性优于对照组患儿,并且差异有统计学意义(Z=-5.303,P<0.001)。PKU组中来自城市、农村患儿治疗依从性,亦均优于对照组,并且差异均有统计学意义(Z=-4.027�Objective To explore clinical implementation effects of Special Milk Powder Subsidizing Program for Children with Phenylketonuria(PKU)Phase 2(referred to as"PKU project").Methods From May 2016 to April 2017,a total of 190 children with PKU diagnosed within 3 month after birth and meeting inclusion and exclusion criteria of PKU project were recruited into PKU project in 11 provinces and autonomous regions and were included into PKU group.Another 59 children with PKU who were diagnosed as PKU within 3 months after birth in the same region as children in PKU group,but did not participate in PKU project and were willing to be followed up in this survey were selected as controls and included into control group.Children in PKU group were included in unified management of PKU project,and guardians of children were provided with health education related with PKU online and offline,and children were provided with phenylalanine(Phe)free formula milk powder for free,about 6 cans(450 g/can)per month,a total of 216 cans.Treatment and management of PKU children in control group were mainly referred to relevant principles and requirements of Technical Specifications for Diagnosis and Treatment of Phenylketonuria and Congenital Hypothyroidism issued by the former National Ministry of Health in 2010.Blood Phe concentration,physical and intellectual development of children in two groups were monitored regularly.Mann-Whitney U test,chi-square test,Cochran-Mantel-Haenszel test and Fisher's exact probability test were used to compare treatment compliance,compliance rate of monitoring times of blood Phe concentration,physical and intellectual development,proportion of children whose blood Phe concentration control compliance rate≥80%,and proportion of physical and intellectual development reached normal standard.Procedures followed in this study met the standards formulated by the Ethics Review Committee of West China Second University Hospital,Sichuan University and has been approved by it[Approval No.2021(063)].The informed consen

关 键 词：苯丙酮尿症 苯丙氨酸 特殊奶粉 治疗依从性 生长和发育 智力测验 儿童 

分 类 号：R725.9[医药卫生—儿科]