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A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening

S. Weidler, KH. Stopsack, J. Hammermann, O. Sommerburg, MA. Mall, GF. Hoffmann, D. Kohlmüller, JG. Okun, M. Macek, F. Votava, V. Krulišová, M. Balaščaková, V. Skalická, MA. Lee-Kirsch, M. Stopsack,

. 2016 ; 15 (6) : 752-758. [pub] 20160722

Jazyk angličtina Země Nizozemsko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18011102

BACKGROUND: In cystic fibrosis newborn screening (CFNBS), immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) can be used as screening parameters. We evaluated the IRT×PAP product as second-tier parameter in CFNBS in newborns with elevated IRT. METHODS: Data on 410,111 screened newborns including 78 patients with classical cystic fibrosis (CF) from two European centers were retrospectively analyzed by discrimination analysis to identify a screening protocol with optimal cutoffs. We also studied differences in PAP measurement methods and the association of IRT and PAP with age. RESULTS: PAP values differed systematically between fluorometric and photometric assays. The IRT×PAP product showed better discrimination for classical CF than PAP only as second-tier screening parameter (p<0.001). In CF patients, IRT decreased while PAP values remained high over years. In newborns without CF, IRT decreased after birth over weeks while PAP increased within days. CONCLUSIONS: The IRT×PAP product performs well as second-tier cutoff parameter for CFNBS. Screening quality parameters depend on the analytic method and on age at blood collection.

Citace poskytuje Crossref.org

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$a BACKGROUND: In cystic fibrosis newborn screening (CFNBS), immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) can be used as screening parameters. We evaluated the IRT×PAP product as second-tier parameter in CFNBS in newborns with elevated IRT. METHODS: Data on 410,111 screened newborns including 78 patients with classical cystic fibrosis (CF) from two European centers were retrospectively analyzed by discrimination analysis to identify a screening protocol with optimal cutoffs. We also studied differences in PAP measurement methods and the association of IRT and PAP with age. RESULTS: PAP values differed systematically between fluorometric and photometric assays. The IRT×PAP product showed better discrimination for classical CF than PAP only as second-tier screening parameter (p<0.001). In CF patients, IRT decreased while PAP values remained high over years. In newborns without CF, IRT decreased after birth over weeks while PAP increased within days. CONCLUSIONS: The IRT×PAP product performs well as second-tier cutoff parameter for CFNBS. Screening quality parameters depend on the analytic method and on age at blood collection.
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$a Stopsack, Konrad H $u Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
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$a Hammermann, Jutta $u Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany.
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$a Sommerburg, Olaf $u Division of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center, Department of Pediatrics III, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
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$a Mall, Marcus A $u Division of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center, Department of Pediatrics III, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany; Department of Translational Pulmonology, Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), University of Heidelberg, Im Neuenheimer Feld 156, D-69120 Heidelberg, Germany.
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$a Hoffmann, Georg F $u Department of General Pediatrics, Division of Metabolic Diseases and Newborn Screening Center, Department of Pediatrics I, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany.
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$a Kohlmüller, Dirk $u Department of General Pediatrics, Division of Metabolic Diseases and Newborn Screening Center, Department of Pediatrics I, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany.
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$a Okun, Jürgen G $u Department of General Pediatrics, Division of Metabolic Diseases and Newborn Screening Center, Department of Pediatrics I, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany.
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$a Macek, Milan $u Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University Prague and Motol University Hospital, V Uvalu 84, Prague CZ 150 06, Czech Republic.
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$a Votava, Felix $u Department of Pediatrics, University Hospital Kralovske Vinohrady, 3rd Faculty of Medicine, Charles University, Srobarova 50, Prague, CZ 100 34, Czech Republic.
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$a Krulišová, Veronika $u Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University Prague and Motol University Hospital, V Uvalu 84, Prague CZ 150 06, Czech Republic.
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$a Balaščaková, Miroslava $u Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University Prague and Motol University Hospital, V Uvalu 84, Prague CZ 150 06, Czech Republic.
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$a Skalická, Veronika $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University Prague and Motol University Hospital, V Uvalu 84, PragueCZ 150 06, Czech Republic.
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$a Lee-Kirsch, Min Ae $u Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany.
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$a Stopsack, Marina $u Institute of Clinical Chemistry and Laboratory Medicine, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address: marina.stopsack@uniklinikum-dresden.de.
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