Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries
2015
Authors
Zerjav Tansek, MojcaGroselj, Urh
Angelkova, Natalija
Anton, Dana
Barić, Ivo
Đorđević, Maja
Grimci, Lindita
Ivanova, Maria
Kadam, Adil
Kotori, Vjosa
Maksić, Hajrija
Marginean, Oana
Margineanu, Otilia
Miljanović, Olivera
Moldovanu, Florentina
Muresan, Mariana
Nanu, Michaela
Samardzić, Mira
Sarnavka, Vladimir
Savov, Aleksei
Stojiljković, Maja
Suzić, Biljana
Tincheva, Radka
Tahirović, Husref
Toromanović, Alma
Usurelu, Natalia
Battelino, Tadej
Article (Published version)
Metadata
Show full item recordAbstract
Background: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. Methods: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre. It consisted of 56 questions. The distribution and collection of the questionnaires (via e-mail) was taking place from December 2013 to March 2014. Results: Responses from participants from 11 countries were included; the countries cumulative population is approx. 52.5 mio. PKU screening was not yet introduced in 4 of 11 countries. Reported PKU incidences ranged from 1/7325 to... 1/39338 (and were not known for 5 countries). National PKU guidelines existed in 5 of 11 countries and 7 of 11 countries had PKU registry (registries included 40 to 194 patients). The number of PKU centers in each country varied from1 to 6. Routine genetic diagnostics was reported in 4 of 11 countries. Most commonly used laboratory method to assess phenylalanine levels was fluorometric. Tetrahydrobiopterine was used in only 2 of 11 countries. Most frequently, pediatricians were caring for the patients. Dietitian was a member of PKU team in only 4 of 11 countries, while regular psychological assessments were performed in 6 of 11 countries. Patient's PKU society existed in 7 of 11 countries. Conclusions: The region of southeastern Europe was facing certain important challenges of PKU screening and management. Neonatal PKU screening should be introduced throughout the region. Furthermore, PKU management was falling behind internationally established standards-of-care in many aspects.
Keywords:
Survey / Standards of care / Southeastern Europe / Screening / Recommendations / PKU / Phenylketonuria / Management / HyperphenylalaninemiaSource:
Orphanet Journal of Rare Diseases, 2015, 10Publisher:
- BMC, London
Funding / projects:
- Slovenian National Research Agency [J3-2412, J3-9663, P3-0343]
DOI: 10.1186/s13023-015-0283-0
ISSN: 1750-1172
PubMed: 26025111
WoS: 000355582500001
Scopus: 2-s2.0-84930677416
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Institution/Community
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Zerjav Tansek, Mojca AU - Groselj, Urh AU - Angelkova, Natalija AU - Anton, Dana AU - Barić, Ivo AU - Đorđević, Maja AU - Grimci, Lindita AU - Ivanova, Maria AU - Kadam, Adil AU - Kotori, Vjosa AU - Maksić, Hajrija AU - Marginean, Oana AU - Margineanu, Otilia AU - Miljanović, Olivera AU - Moldovanu, Florentina AU - Muresan, Mariana AU - Nanu, Michaela AU - Samardzić, Mira AU - Sarnavka, Vladimir AU - Savov, Aleksei AU - Stojiljković, Maja AU - Suzić, Biljana AU - Tincheva, Radka AU - Tahirović, Husref AU - Toromanović, Alma AU - Usurelu, Natalia AU - Battelino, Tadej PY - 2015 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/808 AB - Background: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. Methods: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre. It consisted of 56 questions. The distribution and collection of the questionnaires (via e-mail) was taking place from December 2013 to March 2014. Results: Responses from participants from 11 countries were included; the countries cumulative population is approx. 52.5 mio. PKU screening was not yet introduced in 4 of 11 countries. Reported PKU incidences ranged from 1/7325 to 1/39338 (and were not known for 5 countries). National PKU guidelines existed in 5 of 11 countries and 7 of 11 countries had PKU registry (registries included 40 to 194 patients). The number of PKU centers in each country varied from1 to 6. Routine genetic diagnostics was reported in 4 of 11 countries. Most commonly used laboratory method to assess phenylalanine levels was fluorometric. Tetrahydrobiopterine was used in only 2 of 11 countries. Most frequently, pediatricians were caring for the patients. Dietitian was a member of PKU team in only 4 of 11 countries, while regular psychological assessments were performed in 6 of 11 countries. Patient's PKU society existed in 7 of 11 countries. Conclusions: The region of southeastern Europe was facing certain important challenges of PKU screening and management. Neonatal PKU screening should be introduced throughout the region. Furthermore, PKU management was falling behind internationally established standards-of-care in many aspects. PB - BMC, London T2 - Orphanet Journal of Rare Diseases T1 - Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries VL - 10 DO - 10.1186/s13023-015-0283-0 ER -
@article{ author = "Zerjav Tansek, Mojca and Groselj, Urh and Angelkova, Natalija and Anton, Dana and Barić, Ivo and Đorđević, Maja and Grimci, Lindita and Ivanova, Maria and Kadam, Adil and Kotori, Vjosa and Maksić, Hajrija and Marginean, Oana and Margineanu, Otilia and Miljanović, Olivera and Moldovanu, Florentina and Muresan, Mariana and Nanu, Michaela and Samardzić, Mira and Sarnavka, Vladimir and Savov, Aleksei and Stojiljković, Maja and Suzić, Biljana and Tincheva, Radka and Tahirović, Husref and Toromanović, Alma and Usurelu, Natalia and Battelino, Tadej", year = "2015", abstract = "Background: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. Methods: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre. It consisted of 56 questions. The distribution and collection of the questionnaires (via e-mail) was taking place from December 2013 to March 2014. Results: Responses from participants from 11 countries were included; the countries cumulative population is approx. 52.5 mio. PKU screening was not yet introduced in 4 of 11 countries. Reported PKU incidences ranged from 1/7325 to 1/39338 (and were not known for 5 countries). National PKU guidelines existed in 5 of 11 countries and 7 of 11 countries had PKU registry (registries included 40 to 194 patients). The number of PKU centers in each country varied from1 to 6. Routine genetic diagnostics was reported in 4 of 11 countries. Most commonly used laboratory method to assess phenylalanine levels was fluorometric. Tetrahydrobiopterine was used in only 2 of 11 countries. Most frequently, pediatricians were caring for the patients. Dietitian was a member of PKU team in only 4 of 11 countries, while regular psychological assessments were performed in 6 of 11 countries. Patient's PKU society existed in 7 of 11 countries. Conclusions: The region of southeastern Europe was facing certain important challenges of PKU screening and management. Neonatal PKU screening should be introduced throughout the region. Furthermore, PKU management was falling behind internationally established standards-of-care in many aspects.", publisher = "BMC, London", journal = "Orphanet Journal of Rare Diseases", title = "Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries", volume = "10", doi = "10.1186/s13023-015-0283-0" }
Zerjav Tansek, M., Groselj, U., Angelkova, N., Anton, D., Barić, I., Đorđević, M., Grimci, L., Ivanova, M., Kadam, A., Kotori, V., Maksić, H., Marginean, O., Margineanu, O., Miljanović, O., Moldovanu, F., Muresan, M., Nanu, M., Samardzić, M., Sarnavka, V., Savov, A., Stojiljković, M., Suzić, B., Tincheva, R., Tahirović, H., Toromanović, A., Usurelu, N.,& Battelino, T.. (2015). Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. in Orphanet Journal of Rare Diseases BMC, London., 10. https://doi.org/10.1186/s13023-015-0283-0
Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Barić I, Đorđević M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksić H, Marginean O, Margineanu O, Miljanović O, Moldovanu F, Muresan M, Nanu M, Samardzić M, Sarnavka V, Savov A, Stojiljković M, Suzić B, Tincheva R, Tahirović H, Toromanović A, Usurelu N, Battelino T. Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. in Orphanet Journal of Rare Diseases. 2015;10. doi:10.1186/s13023-015-0283-0 .
Zerjav Tansek, Mojca, Groselj, Urh, Angelkova, Natalija, Anton, Dana, Barić, Ivo, Đorđević, Maja, Grimci, Lindita, Ivanova, Maria, Kadam, Adil, Kotori, Vjosa, Maksić, Hajrija, Marginean, Oana, Margineanu, Otilia, Miljanović, Olivera, Moldovanu, Florentina, Muresan, Mariana, Nanu, Michaela, Samardzić, Mira, Sarnavka, Vladimir, Savov, Aleksei, Stojiljković, Maja, Suzić, Biljana, Tincheva, Radka, Tahirović, Husref, Toromanović, Alma, Usurelu, Natalia, Battelino, Tadej, "Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries" in Orphanet Journal of Rare Diseases, 10 (2015), https://doi.org/10.1186/s13023-015-0283-0 . .