van Rijn Margreet, Ahring Kirsten, Bélanger-Quintana Amaya, Dokoupil Kathi, Ozel Hulya Gokmen, Lammardo Anna Maria, Robert Martine, Rocha Júlio C, MacDonald Anita
Section of Metabolic Diseases, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Department of Clinical Genetics, Copenhagen University Hospital, Kennedy Centre, Glostrup, Denmark.
Mol Genet Metab Rep. 2015 Feb 9;2:85-88. doi: 10.1016/j.ymgmr.2015.01.002. eCollection 2015 Mar.
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.
终身低苯丙氨酸饮食管理是苯丙酮尿症（PKU）护理的基础。然而，严格监测食物摄入量给患者及其照顾者带来了负担，并且在儿童后期和青少年期，对规定饮食的依从性常常会下降。很少有PKU患儿的父母拒绝认识到这种慢性病治疗和随访的重要性。在此，介绍两个案例研究，记录了作为改善持续高苯丙氨酸浓度的最后手段，考虑将儿童安置在寄养家庭或亲属家庭的情况。在第一个案例中，社会服务转介导致一名3岁女孩被安置在与她祖父母一起的亲属家庭，此后苯丙氨酸得到了很好的控制。在第二个案例中，与一名12岁儿童的父母讨论将其安置在寄养家庭的可能性足以对苯丙氨酸控制产生积极影响。本文提出了一种用于管理PKU中难治性不依从的分阶段方法。
