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

Abstract : 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.
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European Journal of Pediatrics, Springer Verlag, 2016, 175 (2), pp.261 - 272. 〈10.1007/s00431-015-2622-5〉
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https://hal.univ-lorraine.fr/hal-01661680
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Soumis le : mardi 12 décembre 2017 - 09:58:23
Dernière modification le : jeudi 11 janvier 2018 - 15:34:50

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Maria Giżewska, Anita Macdonald, Amaya Bélanger-Quintana, Alberto Burlina, Maureen Cleary, et al.. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results. European Journal of Pediatrics, Springer Verlag, 2016, 175 (2), pp.261 - 272. 〈10.1007/s00431-015-2622-5〉. 〈hal-01661680〉

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