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

ZHOU Shangqin; CHEN Xi; XUE Shuyuan; ZHANG Luhan; DING Guifeng

doi:10.11852/zgetbjzz2023-0336

PDF(747 KB)

Chinese Journal of Child Health Care ›› 2024, Vol. 32 ›› Issue (2) : 191-195. DOI: 10.11852/zgetbjzz2023-0336

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

Author information +

History +

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

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

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 https://doi.org/10.11852/zgetbjzz2023-0336

References

[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.