Transition of young adults with phenylketonuria from pediatric to adult care

• Published in: Journal of inherited metabolic disease 2011-06, Vol.34 (3), p.701-709
• Main Authors: Mütze, Ulrike, Roth, Annika, Weigel, Johannes F. W., Beblo, Skadi, Baerwald, Christoph G., Bührdel, Peter, Kiess, Wieland
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aminoacid disorders; Biochemistry; Biological and medical sciences; Child; Continuity of Patient Care - organization & administration; Errors of metabolism; Female; General aspects; Germany; Human Genetics; Humans; Internal Medicine; Male; Medical genetics; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Original Article; Patient Transfer - methods; Pediatrics; Pediatrics - methods; Phenylketonurias - therapy; Quality of Health Care; Quality of Life; Surveys and Questionnaires; Young Adult
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-011-9284-x

Background Transition from pediatric to adult health care is a particularly vulnerable period for patients with inborn metabolic diseases. Aim of the present study was to evaluate the current transition situation of patients with phenylketonuria (PKU) in Leipzig, Germany, by analysis of the medical care, metabolic control, patients’ satisfaction, socio-economic and psychosocial status, in order to identify areas of weakness and potential improvement. Methods Patients who had been transferred from pediatric to adult medical care between 2005 and 2008 were identified. An interview was performed using a questionnaire. Pediatric case notes and the present physician’s case notes were analyzed retrospectively. Socio-demographic data were compared to data derived from the annual statistics of the city of Leipzig, Germany in 2008. Results seventy two transferred patients were identified and included in the study, 48 patients responded to the questionnaire, the data of 24 non-responders were analysed retrospectively. About 90% of the responding patients with PKU were satisfied with the current transition situation. However, they agreed to several suggestions of improvement. Most specifically an interdisciplinary appointment before the definite transfer to the adult clinics was asked for. At the time of transition, most of the patients were in good metabolic control according to current treatment guidelines (median dried blood phenylalanine concentration 853 μmol/l before versus 690 μmol/l after transition). Of the interviewed patients 92% were still on a low phenylalanine diet in combination with the intake of a phenylalanine free amino acid mixture. Of the interviewees 77% carried a secondary school certificate or a secondary modern school qualification, but only 19% had achieved senior high school diploma (controls 38.2%). Marital status was comparable with the population of Leipzig. However, fewer patients with PKU had children (15% versus 37%). Conclusion Transition of patients with PKU from pediatric to adult care seems to be successful in Leipzig. Patients were mostly satisfied with the transition situation. Still, some suggestions for improvements appeared to be desirable. During transition medical care and metabolic control were stable. However, with regard to psychosocial and socioeconomic data differences to the control population were detected.