Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

European Journal of Pediatrics, Sep 2015

To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A questionnaire-based survey was performed to document diagnosis and management practices for PKU in a region of Southern and Eastern Europe. Prevalence and management data were obtained from 37/59 (63 %) centres within 19/22 (86 %) contacted countries (N = 8600 patients). The main results’ analysis was based on completed questionnaires obtained from 31 centres (53 %) within 15 countries (68 %). A median of 10 % of patients per centre had been diagnosed after the newborn period. Metabolic dieticians and specialised adult PKU clinics were lacking in 36 and 84 % of centres, respectively. In 26 % of centres, treatment initiation was delayed until >15 days of life. Blood phenylalanine (Phe) thresholds to start treatment and upper Phe targets were inconsistent across centres. Ten percent of centres reported monitoring Phe every 2 weeks for pregnant women with PKU, which is insufficient to minimise risk of neonatal sequalae. Sapropterin dihydrochloride treatment was available in 48 % of centres, with 24-h responsiveness tests most common (36 %). Only one centre among the five countries lacking newborn screening provided a completed questionnaire. Conclusion: Targeted efforts by health care professionals and governments are needed to optimise diagnostic and management approaches for PKU in Southern and Eastern Europe. “What is Known” • PKU must be detected early and optimally managed throughout life to avoid poor outcomes, yet newborn screening is not universal and diagnostic and management practices for PKU are known to vary widely between different centres and countries. • Targeted efforts by health care professionals and governments are needed to optimise diagnostic and management approaches. “What is New” • PKU management practices are documented in 19 South and Eastern European countries indicating a heterogeneous situation across the region. • Key areas for improvement identified in surveyed centres include a need for comprehensive screening in all countries, increased number of metabolic dietitians and specialised adult PKU clinics, delayed time to treatment initiation, appropriate Phe thresholds, Phe targets and monitoring frequencies, and universal access to currently available treatment options.

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Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results Maria Giżewska 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Anita MacDonald 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Amaya Bélanger-Quintana 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Alberto Burlina 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Maureen Cleary 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Turgay Coşkun 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 François Feillet 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Ania C. Muntau 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Friedrich K. Trefz 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Francjan J. van Spronsen 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Nenad Blau 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Anita MacDonald 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Nenad Blau 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 0 Maureen Cleary 1 Department of Metabolic Medicine, Great Ormond Street Hospital , London , UK 2 Alberto Burlina 3 Department of Pediatrics, University Hospital , Padova , Italy 4 University Children's Hospital, University Medical Center Hamburg Eppendorf , Hamburg , Germany 5 Maria Giżewska 6 Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine , Hacettepe, Ankara , Turkey 7 Hospital Ramon y Cajal , Madrid , Spain 8 Department of Dietetics, The Children's Hospital , Birmingham , UK 9 Department of Pediatrics , Endocrinology, Diabetology, Metabolic Diseases and Cardiology , Pomeranian Medical University , 71-252 Szczecin; Unii Lubelskiej 1, Szczecin , Poland 10 Department of Paediatrics, University of Groningen , Groningen , The Netherlands 11 Friedrich K. Trefz 12 University Children's Hospital , Heidelberg , Germany 13 Ania C. Muntau 14 François Feillet 15 Dietmar-Hopp Metabolic Center, University Children's Hospital , Heidelberg , Germany 16 Turgay Coşkun To avoid potentially severe outcomes, phenylke37/59 (63 %) centres within 19/22 (86 %) contacted countries tonuria (PKU) must be detected as soon as possible after birth (N=8600 patients). The main results' analysis was based on and managed with life-long treatment. A questionnaire-based completed questionnaires obtained from 31 centres (53 %) survey was performed to document diagnosis and managewithin 15 countries (68 %). A median of 10 % of patients ment practices for PKU in a region of Southern and Eastern per centre had been diagnosed after the newborn period. MetEurope. Prevalence and management data were obtained from abolic dieticians and specialised adult PKU clinics were Communicated by Beat Steinmann - lacking in 36 and 84 % of centres, respectively. In 26 % of centres, treatment initiation was delayed until >15 days of life. Blood phenylalanine (Phe) thresholds to start treatment and upper Phe targets were inconsistent across centres. Ten percent of centres reported monitoring Phe every 2 weeks for pregnant women with PKU, which is insufficient to minimise risk of neonatal sequalae. Sapropterin dihydrochloride treatment was available in 48 % of centres, with 24-h responsiveness tests most common (36 %). Only one centre among the five countries lacking newborn screening provided a completed questionnaire. Conclusion: Targeted efforts by health care professionals and governments are needed to optimise diagnostic and management approaches for PKU in Southern and Eastern Europe. BWhat is Known^ PKU must be detected early and optimally managed throughout life to avoid poor outcomes, yet newborn screening is not universal and diagnostic and management practices for PKU are known to vary widely between different centres and countries. Targeted efforts by health care professionals and governments are needed to optimise diagnostic and management approaches. BWhat is New^ PKU management practices are documented in 19 South and Eastern European countries indicating a heterogeneous situation across the region. Key areas for improvement identified in surveyed centres include a need for comprehensive screening in all countries, increased number of metabolic dietitians and specialised adult PKU clinics, delayed time to treatment initiation, appropriate Phe thresholds, Phe targets and monitoring frequencies, and universal access to currently available treatment options. Phenylketonuria (PKU; OMIM: #261600) is an inborn error of phenylalanine (Phe) metabolism with an estimated average prevalence in Europe of 1/10,000 live births [16]. Timely newborn screening and life-long Phe-restricted diet enable the severe outcomes of untreated PKU to be avoided [2]. Despite the cost-effective nature of newborn screening, it has been reported that several countries either do not offer this service or can offer it to only part of their population [3–5, 9, 10, 15, 20, 22–24, 30]. Furthermore, diagnostic and management practices for PKU vary between countries. The present study was conducted to describe the management and treatm (...truncated)


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Maria Giżewska, Anita MacDonald, Amaya Bélanger-Quintana, Alberto Burlina, Maureen Cleary, Turgay Coşkun, François Feillet, Ania C. Muntau, Friedrich K. Trefz, Francjan J. van Spronsen, Nenad Blau. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results, European Journal of Pediatrics, 2016, pp. 261-272, Volume 175, Issue 2, DOI: 10.1007/s00431-015-2622-5