İsmail Mücahit ALPTEKİN, Funda Pınar ÇAKIROĞLU

Fenilketonüri Hastalarının Sosyal Yaşamda Karşılaştıkları Zorluklar: Niteliksel Bir Araştırma

Amaç: Protein kısıtlı diyet PKU tedavisinde temel faktördür. Ancak ömür boyu uyulması gereken sınırlı besin tüketimi, özel ürün tüketimi gibi diyet kuralları, PKU hastalarının sosyal yaşamlarını olumsuz etkileyebilmektedir. Bu araştırmada, doğuştan otozomal resesif bir hastalık olan PKU’nun bu hastalığa sahip bireylerin sosyal yaşamlarında neden olduğu sorunları ele almak amaçlanmıştır

Challenges of Patients With Phenylketonuria In Social Life: a Qualitative Research

Objectives: Protein-restricted diet is a key factor in the treatment of PKU. However, dietary rules such as limited food/special product consumption for a lifelong can adversely affect the life of PKU patients. In this study, it was aimed to investigate the challenges that PKU, an inherited autosomal recessive disease, causes in social life of PKU patients

Keywords:

Phenylketonuria quality of life, diet,

PDF

___

Santos LL, Fonseca CG, Starling ALP, Januário Jn, Aguıar MJB, Peixoto MGCD, Carvalho MRS. Variations in genotype-phenotype correlations in phenylketonuria patients. Genet Mol Res 2010;9:1–8. [CrossRef]

Williams RA, Mamotte CDS, Burnett JR. Phenylketonuria: An Inborn Error of Phenylalanine Metabolism. Clin Biochem Rev 2008;29:31–41. Erişim: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423317/

Thimm E, Schmidt LE, Heldt K, Spiekerkoetter U. Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents. J Inherit Metab Dis 2013;36:767–72. [CrossRef]

Fidika A, Salewski C, Goldbeck L. Quality of life among parents of children with phenylketonuria (PKU). Health Qual Life Outcomes 2013;11:54–63. [CrossRef]

Bosch AM, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Koledova E, et al. Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. Orphanet J Rare Dis 2015;10:80–94. [CrossRef]

Özalp I, Coşkun T, Tokatlı A, Kalkanoğlu HS, Dursun A, Tokol S, et al. Newborn PKU screening in Turkey: at present and organization for future. Turk J Pediatr 2001;43:97–101.

Evans S, Daly A, Chahal S, Macdonald J, Macdonald A. Food acceptance and neophobia in children with phenylketonuria: a prospective controlled study. J Hum Nutr Diet 2016;29:427–33. [CrossRef]

Crujeiras V, Aldamiz-Echevarria L, Dalmau J, Vitoria I, Andrade F, Roca I, et al. Vitamin and mineral status in patients with hyperphenylalaninemia. Mol Genet Metab 2015;115:145–50. [CrossRef]

Gökmen-Özel H, Büyüktuncer Z, Köksal G, Kalkanoğlu-Sivri HS, Coşkun T. Home visits in phenilketonuria: a 12-month longitudinal study. Turk J Pediatr 2011;53:149–53.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab 2014;112:87–122. [CrossRef]

Jahja R, Van-Spronsen FJ, De Sonneville LM, Van Der Meere JJ, Bosch AM, Hollak CE, et al. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. J Inherit Metab Dis 2016;39:355–62. [CrossRef]

Vegni E, Fori L, Riva E, Giovannini M, Moja EA. How individuals with phenylketonuria experience their illness: an age-related qualitative study. Child Care Health Dev 2009;36:539–48. [CrossRef]

Di Ciommo V, Forcella E, Cotugno G. Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study. J Dev Behav Pediatr 2012;33:229–35. [CrossRef]