Maternales Phenylketonurie-Syndrom trotz intensiver Patientenberatung

Thiele

Baerwald

et al. 2016

Orphanet J Rare Dis

BackgroundSpecialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten years after establishment of a coordinated transition process and specialised adult care for inherited metabolic diseases, adult PKU care was evaluated with respect to metabolic control, therapy satisfaction, life satisfaction, sociodemographic data, economical welfare as well as pregnancy outcome.MethodsAll PKU patients transferred from paediatric to adult care between 2005 and 2015 were identified. A retrospective data analysis and a cross-sectional survey in a sub-cohort of 30 patients including a questionnaire for assessing quality of life (FLZm) were performed as a single-centre investigation at the metabolic department of the University Hospital Leipzig, Germany. For statistical analysis, Mann-Whitney-U-test, t-test for independent samples, ANOVA and chi square test were used as appropriate.Results96 PKU patients (56 females/40 males; median age 32 years, range 18–62) were included. In the last 3-year period, 81 % of the transferred patients still kept contact to the adult care centre. Metabolic control was stable over the evaluation period and dried blood phenylalanine concentrations mostly remained within the therapeutic range (median 673.0 μmol/l, range 213.0–1381.1). Sociodemographic data, economical welfare and life satisfaction data were comparable to data from the general population. However, differences could be revealed when splitting the cohort according to time of diagnosis and to management during childhood. 83 % of the PKU adults were satisfied with the transition process and current adult care. 25 completed pregnancies were supervised; three newborns, born after unplanned pregnancy, showed characteristic symptoms of maternal PKU syndrome.ConclusionsContinuous care for adult PKU patients in a specialized outpatient clinic is successful, leading to good to satisfactory metabolic control and social outcomes. Uninterrupted good metabolic treatment throughout childhood and adolescence positively influences educational, professional and economic success in later life. Further effort in specialized paediatric and adult metabolic care is needed to prevent loss of follow-up and to support the recommended life-long treatment and/or care.

Section: Discussionmentioning

confidence: 99%

Ten years of specialized adult care for phenylketonuria – a single-centre experience

Thiele

Baerwald

et al. 2016

Orphanet J Rare Dis

“…Further studies are needed to answer this question. On the other hand the risk of maternal PKU is an important factor for optimising the transition process from pediatric to adult medicine (Unger et al 2009).…”

Section: Respondersmentioning

confidence: 99%

Transition of young adults with phenylketonuria from pediatric to adult care

Roth

Weigel

et al. 2011

J of Inher Metab Disea

Self Cite

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.

“…Die gesundheitsbezogene Lebensqualität von Patienten mit PKU ist in allen Altersstufen ebenso gut wie die Gesunder, obwohl die Sensitivität der zur Verfügung stehenden Fragebögen beschränkt erscheint (4,27,36 (27,34). Das Herausfallen aus dem Betreuungsnetz, die unzureichende oder abgebrochene Therapie und die damit verschlechterte metabolische Einstellung birgt bei Patientinnen mit PKU insbesondere die Gefahr der maternalen PKU (33).…”

Section: Prognose Outcomeunclassified

Klassische Phenylketonurie und Tetrahydrobiopterin (BH4)-responsive Hyperphenylalaninämie

Kinder- und Jugendmedizin

Arélin²,

Beblo³

2011

ZusammenfassungDie Phenylketonurie (PKU) ist eine der häufigsten angeborenen Stoffwechselerkrankungen. Ursache ist die Aktivitätsminderung der Phenylalaninhydroxylase (PAH). Unbehandelt führt die Erkrankung zu schwerer psycho-motorischer Retardierung. Die PKU war die erste im Neugeborenenalter gescreente Erkrankung. Diagnostik und Therapie sind bereits seit über 40 Jahren etabliert. Die konsequente Therapie aus phenylalaninarmer Diät und Aminosäuresubstitution ermöglicht den Patienten eine regelrechte physische und mentale Entwicklung. Seit ihrer Einführung konnte die Therapie stetig weiterentwickelt und optimiert werden. In den letzten Jahren wurde zudem die Gabe von Tetrahydrobiopterin (BH4) zur Steigerung der PAH-Aktivität bei BH4-responsiven Formen der PKU eingeführt. Einigen Patienten ermöglicht dies eine merkliche Lockerung der diätetischen Therapie. In Diagnostik und Therapie ist die PKU zu einer Modellkrankheit für andere seltenere angeborene Stoffwechselerkrankungen geworden. Eine Herausforderung in der Betreuung von Patienten mit PKU stellen heute die Aufrechterhaltung der Compliance für eine lebenslange Therapie, die Vermeidung der maternalen PKU und die Transition der Patienten aus der pädiatrischen Betreuung in die der Erwachsenenmedizin dar.