| Autor: |
van Rijn M; Section of Metabolic Diseases, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Ahring K; Department of Clinical Genetics, Copenhagen University Hospital, Kennedy Centre, Glostrup, Denmark., Bélanger-Quintana A; Unidad de Enfermedades Metabolicas, Hospital Ramon y Cajal, Madrid, Spain., Dokoupil K; Department of Metabolism and Nutrition, Dr von Hauner Children's Hospital, University of Munich, Munich, Germany., Ozel HG; Faculty of Health Sciences, Department of Nutrition and Dietetics, Hacettepe University, Ankara, Turkey., Lammardo AM; San Paolo Hospital, University of Milan, Milan, Italy., Robert M; Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium., Rocha JC; Centro de Genética Médica Doutor Jacinto de Magalhães, CHP EPE, Porto, Portugal.; Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, Porto, Portugal.; Center for Health Technology and Services Research (CINTESIS), Porto, Portugal., MacDonald A; The Children's Hospital, Birmingham, United Kingdom. |
| Abstrakt: |
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. |
