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  • 标题:When should social service referral be considered in phenylketonuria?
  • 作者:Margreet van Rijn ; Kirsten Ahring ; Amaya Bélanger-Quintana
  • 期刊名称:Molecular Genetics and Metabolism Reports
  • 印刷版ISSN:2214-4269
  • 出版年度:2015
  • 卷号:2
  • 页码:85-88
  • DOI:10.1016/j.ymgmr.2015.01.002
  • 出版社:Elsevier B.V.
  • 摘要:Abstract Lifelong low-phenylalanine (Phe) dietary management is the foundation of care in phenylketonuria (PKU). However, strict monitoring of food intake places a burden on patients and their caregivers, and adherence to the required diet frequently decreases in later childhood and adolescence. Rarely, parents of children with {PKU} refuse to recognise the importance of treatment and follow-up for this chronic condition. Here, two case studies are presented that document consideration of placement of children into foster care or kinship homes as a last resort to improve persistently high Phe concentrations. In the first case, social service referral led to a 3-year-old girl being placed in a kinship home with her grandparents, resulting in excellent Phe control thereafter. In the second case, discussion with the parents of possible placement of a 12-year-old child into foster care was sufficient to have a positive effect on Phe control. A staged approach for managing intractable non-adherence in {PKU} is proposed.
  • 关键词:Phenylketonuria; Adherence; Social services; Child protection; Foster care; Case study
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