新疆地区四地州苯丙酮尿症患者特食治疗随访依从性的影响因素

doi:10.11852/zgetbjzz2023-0336

中国儿童保健杂志 ›› 2024, Vol. 32 ›› Issue (2): 191-195.DOI: 10.11852/zgetbjzz2023-0336

新疆地区四地州苯丙酮尿症患者特食治疗随访依从性的影响因素

周尚琴^1,2, 陈曦³, 薛淑媛⁴, 张璐涵⁵, 丁桂凤⁶

1.河西学院护理学院,甘肃张掖 734000;
2.新疆医科大学公共卫生学院,新疆维吾尔自治区乌鲁木齐 830000;
3.乌鲁木齐市妇幼保健院儿童康复科,新疆维吾尔自治区乌鲁木齐 830000;
4.乌鲁木齐市妇幼保健院新生儿疾病筛查中心,新疆维吾尔自治区乌鲁木齐 830000;
5.乌鲁木齐市妇幼保健院科教科,新疆维吾尔自治区乌鲁木齐 830000;
6.乌鲁木齐市妇幼保健院产科,新疆维吾尔自治区乌鲁木齐 830000

收稿日期:2023-04-06 发布日期:2024-02-21 出版日期:2024-02-10
通讯作者: 丁桂凤,E-mail:dingguifeng123@126.com
作者简介:周尚琴(1984-),女,甘肃人,讲师,硕士学位,主要研究方向为儿少卫生与妇幼保健学。

Influencing factors of follow-up compliance of special diet therapy in patients with phenylketonuria in four prefectures of Xinjiang Uygur Autonomous Region

ZHOU Shangqin^1,2, CHEN Xi³, XUE Shuyuan⁴, ZHANG Luhan⁵, DING Guifeng⁶

1. School of Nursing, Hexi University, Zhangye, Gansu 734000, China;
2. School of Public Health, Xinjiang Medical University, Urumqi, Xinjiang Uygur Autonomous Region 830000, China;
3. Department of Child Rehabilitation, Urumqi Maternal and Child Health Care Hospital, Urumqi, Xinjiang Uygur Autonomous Region 830000, China;
4. Urumqi Maternal and Child Health Care Hospital Neonatal Disease Screening Center, Urumqi, Xinjiang Uygur Autonomous Region 830000, China;
5. Department of Science and Education, Urumqi Maternal and Child Health Care Hospital, Urumqi, Xinjiang Uygur Autonomous Region 830000, China;
6. Department of Obstetrics, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region 830000, China

Received:2023-04-06 Online:2024-02-10 Published:2024-02-21
Contact: DING Guifeng, E-mail:dingguifeng123@126.com

摘要/Abstract

摘要： 目的了解新疆地区四地州苯丙酮尿症(PKU)患者低/无苯丙氨酸特殊医学用途配方食品(以下简称特食)治疗随访依从性的影响因素,为规范PKU患者的随访,保证特食治疗效果提供依据。方法调查2010年1月—2020年12月在乌鲁木齐市妇幼保健院治疗随访≥1年以上的PKU患者,对其照护人进行访谈、问卷调查,收集整理PKU患者特食治疗现状,分析特食治疗随访依从性的影响因素。结果不同筛查情况,接受过新生儿疾病筛查、新生儿基因确诊、母亲孕期唐氏筛查检查的患者依从性较好,差异有统计学意义(χ²=5.753、10.993、9.189,P＜0.05)。不同家庭情况,父母亲文化程度为大专及以上者PKU患者的特食治疗依从性较高,差异有统计学意义(χ²=8.321、7.415,P＜0.05);父母亲有固定职业的家庭其依从性较高,差异有统计学意义(χ²=20.626、7.895,P＜0.05)。年龄、购买特食的间隔时间、送检血片的次数、正常年龄入学情况(χ²=19.443、8.090、69.482、12.001,P＜0.05)对PKU患者特食治疗随访依从性存在影响。结论 PKU是一种可以治疗的遗传代谢性疾病,结合临床实际加强健康宣教,制订规范的随访方案及流程,提升随访治疗依从性,为提高PKU患者治疗随访成效起到重要作用。

关键词: 苯丙酮尿症, 苯丙氨酸, 特食治疗, 随访依从性

Abstract: Objective To investigate the influencing factors behind the follow-up compliance of patients with low/no phenylketonuria (PKU) for special medical use, in order to provide a basis for regulating the follow-up of PKU patients and ensuring the effectiveness of special diet treatment. Methods A survey was conducted on PKU patients treated in Urumqi Maternal and Child Health Hospital for over 1 year, from January 2010 to December 2020. Interviews and questionnaires were conducted with their caregivers to collect and analyze the current status of PKU patients undergoing special diet treatment, and to identify the influencing factors behind their compliance with follow-up treatment. Results Patients who had received neonatal disease screening, neonatal gene diagnosis, and maternal Down's screening during pregnancy had better compliance, with statistically significant differences (χ²=5.753, 10.993, 9.189, P<0.05). PKU children with parents who had a college education or above showed significantly higher adherence to special diet treatment (χ²=8.321, 7.415, P<0.05). PKU children with parents having a fixed occupation also showed higher compliance, with a statistically significant difference (χ²=20.626, 7.895, P<0.05). Patient age, interval of buying special diet, number of blood samples sent and enrollment of normal age, all had a significant impact on the follow-up compliance of PKU patients with special diet (χ²=19.443, 8.090, 69.482, 12.001, P<0.05). Conclusions PKU is a treatable genetic metabolic disease. Strengthening health education, formulating standardized follow-up plans and procedures, and improving follow-up treatment compliance are crucial in enhancing the treatment and follow-up effectiveness of PKU patients.

Key words: phenylketonuria, phenylalanine, special diet treatment, compliance

中图分类号:

R473.72

周尚琴, 陈曦, 薛淑媛, 张璐涵, 丁桂凤. 新疆地区四地州苯丙酮尿症患者特食治疗随访依从性的影响因素[J]. 中国儿童保健杂志, 2024, 32(2): 191-195.

ZHOU Shangqin, CHEN Xi, XUE Shuyuan, ZHANG Luhan, DING Guifeng. Influencing factors of follow-up compliance of special diet therapy in patients with phenylketonuria in four prefectures of Xinjiang Uygur Autonomous Region[J]. Chinese Journal of Child Health Care, 2024, 32(2): 191-195.

参考文献

[1] 黄尚志, 宋昉. 苯丙酮尿症的临床实践指南[J]. 中华医学遗传学杂志, 2020,3:226-234.
Huang SZ, Song F. Clinical practice guidelines for phenylketonuria[J]. Chinese J Medical Genetics, 2020,3:226-234. (in Chinese)
[2] Longo N, Dimmock D, Levy H, et al. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria[J]. Genet Med, 2019, 21(8):1851-1867.
[3] Lu LH, Xia ZX, Guo JL, et al. Metabolomics analysis reveals perturbations of cerebrocortical metabolic pathways in the pah(enu2) mouse model of phenylketonuria[J]. CNS Neurosci Ther, 2020, 26(4):486-493.
[4] Ganji F, Naseri H, Rostampour N, et al. Assessing the phenylketonuria screening program in newborns, iran 2015-2016[J]. Acta Med Iran, 2018, 56(1):49-55.
[5] Xiang L, Tao J, Deng K, et al. Phenylketonuria incidence in china between 2013 and 2017 based on data from the chinese newborn screening information system:A descriptive study[J]. BMJ Open, 2019, 9(8):e031474.
[6] Romani C, Manti F, Nardecchia F, et al. Cognitive outcomes and relationships with phenylalanine in phenylketonuria:A comparison between italian and english adult samples[J]. Nutrients, 2020, 12(10):3033.
[7] 中华预防医学会出生缺陷预防与控制专业委员会新生儿筛查学组, 中华医学会儿科学分会临床营养学组, 中国医师协会医学遗传医师分会临床生化遗传专业委员会, 等. 苯丙氨酸羟化酶缺乏症饮食治疗与营养管理共识[J]. 中华儿科杂志,2019, 57(6):405-409.
Neonatal Screening Group of Birth Defect Prevention and Control Professional Committee of the Chinese Preventive Medical Association, Clinical Nutrition Group of Pediatrics Branch of the Chinese Medical Association, Clinical Biochemical Genetics Professional Committee of Medical Geneticists Branch of the Chinese Medical Doctor Association, etc. Consensus on dietary treatment and nutritional management of phenylalanine hydroxylase deficiency[J]. Chinese J Pediatrics, 2019, 57(6):405-409. (in Chinese)
[8] 顾学范, 韩连书, 余永国. 中国新生儿遗传代谢病筛查现状及展望[J].罕见病研究,2022, 1(1):13-19.
Gu XF, Han LS, Yu YG. Screening status and prospects of neonatal genetic metabolic diseases in China[J]. Rare Diseases Research,2022, 1(1):13-19. (in Chinese)
[9] 陈梅, 刘清波, 江宁, 等. 苯丙酮尿症质谱筛查和基因诊断分析[J].系统医学,2018, 3(23):121-123.
Chen M, Liu QB, Jiang N, et al. Mass spectrometry screening and genetic diagnosis of phenylketonuria[J]. J Systems Medicine,2018, 3(23):121-123. (in Chinese)
[10] Schwartz TS, Christensen KD, Uveges MK, et al. Effects of participation in a U.S. Trial of newborn genomic sequencing on parents at risk for depression[J]. J Genet Couns, 2022, 31(1):218-229.
[11] Pereira S, Smith HS, Frankel LA, et al. Psychosocial effect of newborn genomic sequencing on families in the babyseq project:A randomized clinical trial[J]. JAMA Pediatric, 2021, 175(11):1132-1141.
[12] Borghi L, Salvatici E, Banderali G, et al. Psychological wellbeing in parents of children with phenylketonuria and association with treatment adherence[J]. Minerva Pediatrics, 2021, 73(4):330-339.
[13] 武万良, 李风侠, 史延. 小儿苯丙氨酸羟化酶缺乏症饮食治疗依从性影响因素分析[J].中国实用儿科杂志,2016, 31(10):793-795.
Wu WL, Li FX, Shi Y. Analysis of influencing factors of dietary treatment compliance in children with phenylalanine hydroxylase deficiency[J]. Chinese Journal of Practical Pediatrics,2016, 31(10):793-795. (in Chinese)
[14] 杨丽珍, 王丁丁. 苯丙酮尿症患儿治疗状况及治疗依从性影响因素分析[J]. 中国全科医学,2014, 17(29):3457-3460.
Yang LZ, Wang DD. Analysis of treatment status and influencing factors of treatment compliance in children with phenylketonuria[J]. Chinese Journal of General Practice,2014, 17(29):3457-3460. (in Chinese)
[15] 温卓宇, 李风侠, 刘鸿丽. 苯丙酮尿症早期治疗依从性与预后关系分析[J].陕西医学杂志,2015, 44(11):1483-1484.
Wen ZY, Li FX, Liu HL. Relationship between early treatment compliance and prognosis of phenylketonuria[J]. Shaanxi Medical Journal,2015, 44(11):1483-1484. (in Chinese)
[16] 杨丽珍, 李荣. 苯丙酮尿症患儿智能发育水平研究[J].海南医学,2014, 25(19):2840-2842.
Yang LZ, Li R. Study on the level of intelligent development in children with phenylketonuria[J]. Hainan Med,2014, 25(19):2840-2842. (in Chinese)
[17] Walkowiak D, Bukowska-Posadzy A, Kauz·ny , et al. Therapy compliance in children with phenylketonuria younger than 5 years:A cohort study[J]. Adv Clin Exp Med, 2019, 28(10):1385-1391.
[18] Didycz B, Bik-Multanowski M. Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria[J]. Mol Genet Metab Rep, 2018, 14:80-82.
[19] Kumar Dalei S, Adlakha N. Food regime for phenylketonuria:Presenting complications and possible solutions[J]. J Multidiscip Healthc, 2022, 15:125-136.
[20] Kenneson A, Singh RH. Natural history of children and adults with phenylketonuria in the nbs-pku connect registry[J]. Mol Genet Metab, 2021, 134(3):243-249.
[21] Wiedemann A, Oussalah A, Jeannesson , et al. Phenylketonuria, from diet to gene therapy[J]. Med Sci(Paris),2020, 36(8-9):725-734.
[22] McWhorter N, Ndugga-Kabuye MK, Puurunen M, et al. Complications of the low phenylalanine diet for patients with phenylketonuria and the benefits of increased natural protein[J]. Nutrients, 2022, 14(23):4960.
[23] Jameson E, Remmington T. Dietary interventions for phenylketonuria[J].Cochrane Database Syst Rev, 2020, 7(7):Cd001304.
[24] Pessoa ALS, Martins AM, Ribeiro EM, et al. Burden of phenylketonuria in latin american patients:A systematic review and meta-analysis of observational studies[J]. Orphanet J Rare Dis, 2022, 17(1):302.
[25] Mainka T, Fischer JF, Huebl J, et al. The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria[J]. Parkinsonism Related Disord, 2021, 89:167-175.

新疆地区四地州苯丙酮尿症患者特食治疗随访依从性的影响因素

Influencing factors of follow-up compliance of special diet therapy in patients with phenylketonuria in four prefectures of Xinjiang Uygur Autonomous Region

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 15

编辑推荐

Metrics

[1]	徐龙芳, 李木祺, 汪玉锋, 任惠平, 刘朔, 王庆华. 菏泽市苯丙酮尿症患儿苯丙氨酸羟化酶基因突变特点[J]. 中国儿童保健杂志, 2021, 29(4): 381-384.
[2]	裴晶晶, 王冉, 郭冰冰, 卫雅蓉, 蒋新液. 41例苯丙酮尿症患儿饮食治疗效果评估[J]. 中国儿童保健杂志, 2020, 28(7): 780-783.
[3]	张亚果, 叶飘, 欧明才, 杨云霞, 陈雪莲, 杨丽涓. 四川省部分地区43例高苯丙氨酸血症患儿相关基因突变分析[J]. 中国儿童保健杂志, 2020, 28(11): 1255-1258.
[4]	邱婷, 许吟, 王丽珍, 章恒, 郭冰冰, 蒋新液. 早期饮食治疗的苯丙酮尿症儿童生活质量现状分析[J]. 中国儿童保健杂志, 2018, 26(7): 796-798.
[5]	刘鸿丽,李风侠. 2010-2016年陕西省新生儿疾病筛查治疗及随访结果分析[J]. 中国儿童保健杂志, 2018, 26(11): 1221-1223.
[6]	戴翔, 胡晞江, 童静, 蔡文倩. 高苯丙氨酸血症苯丙氨酸羟化酶基因突变1例分析[J]. 中国儿童保健杂志, 2017, 25(7): 721-723.
[7]	武万良,李风侠,史延. 母乳喂养对苯丙酮尿症患儿血苯丙氨酸的影响[J]. 中国儿童保健杂志, 2016, 24(7): 776-778.
[8]	刘翛然,陈曦,夏燕,韩宁宁,刘志娟,湃孜莱提·哈斯木,段玲. 新疆地区经典型苯丙酮尿症患儿治疗依从性影响因素分析[J]. 中国儿童保健杂志, 2016, 24(2): 213-216.
[9]	刘风燕. 经典苯丙酮尿症患儿饮食喂养行为对其治疗效果的影响[J]. 中国儿童保健杂志, 2016, 24(12): 1267-1270.
[10]	曹春红,杨小艳,陈焱. 西安市苯丙酮尿症患儿家长心理健康与患儿治疗依从性相关性分析[J]. 中国儿童保健杂志, 2016, 24(11): 1200-1202.
[11]	牛婷婷,周玉侠. 低苯丙氨酸饮食治疗96例儿童苯丙酮尿症的临床观察[J]. 中国儿童保健杂志, 2015, 23(7): 771-773.
[12]	杨小艳,李瑞玲,张梅,曹春红,尤嘉. 2008-2013年西安市新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查与治疗情况分析[J]. 中国儿童保健杂志, 2015, 23(4): 427-429.
[13]	秦小莲,黎秋波,张宁. 2013年玉林市新生儿疾病筛查情况分析[J]. 中国儿童保健杂志, 2015, 23(1): 84-86.
[14]	温卓宇, 黄燕萍, 李风侠. 苯丙酮尿症的饮食干预与儿童智力[J]. 中国儿童保健杂志, 2014, 22(7): 758-759.
[15]	孟祥萍. 2006-2012年西安市新生儿疾病筛查情况分析[J]. 中国儿童保健杂志, 2014, 22(4): 438-440.