Dataset Information

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

ABSTRACT: Specialized 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.All 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.96 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 ?mol/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.Continuous 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.

SUBMITTER: Mutze U

PROVIDER: S-EPMC4806494 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Mütze Ulrike U Thiele Alena Gerlinde AG Baerwald Christoph C Ceglarek Uta U Kiess Wieland W Beblo Skadi S

Orphanet journal of rare diseases 20160324

<h4>Background</h4>Specialized 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 ...[more]

PMID: 27008844

Similar Datasets

Project description:BackgroundEmergency medical services regularly encounter severe burns. As standards of care are relatively well-established regarding their hospital management, prehospital care is comparatively poorly defined. The aim of this study was to describe burned patients taken care of by our physician-staffed emergency medical service (PEMS).MethodsAll patients directly transported by our PEMS to our burn centre between January 2008 and December 2017 were retrospectively enrolled. We specifically addressed three "burn-related" variables: prehospital and hospital burn size estimations, type and volume of infusion and pain assessment and management. We divided patients into two groups for comparison: TBSA < 20% and ≥ 20%. We a priori defined clinically acceptable limits of agreement in the small and large burn group to be ±5% and ± 10%, respectively.ResultsWe included 86 patients whose median age was 26 years (IQR 12-51). The median prehospital TBSA was 10% (IQR 6-25). The difference between the prehospital and hospital TBSA estimations was outside the limits of agreement at 6.2%. The limits of agreement found in the small and large burn groups were - 5.3, 4.4 and - 10.1, 11, respectively. Crystalloid infusion was reported at a median volume of 0.8 ml/kg/TBSA (IQR 0.3-1.4) during the prehospital phase, which extrapolated over the first 8 h would equal to a median volume of 10.5 ml/kg/TBSA. The median verbal numeric rating scale on scene was 6 (IQR 3-8) and 3 (IQR 2-5) at the hospital (p < 0.001). Systemic analgesia was provided to 61 (71%) patients, predominantly with fentanyl (n = 59; 69%), followed by ketamine (n = 7; 8.1%). The median doses of fentanyl and ketamine were 1.7 mcg/kg (IQR 1-2.6) and 2.1 mg/kg (IQR 0.3-3.2), respectively.ConclusionsWe found good agreement in burn size estimations. The quantity of crystalloid infused was higher than the recommended amount, suggesting a potential risk for fluid overload. Most patients benefited from a correct systemic analgesia. These results emphasized the need for dedicated guidelines and decision support aids for the prehospital management of burned patients.

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets