title: Positive neonatal screening for cystic fibrosis in neonates with renal failure.
abstract: Screening for cystic fibrosis (CF) was recently added to the neonatal screening programme in the Netherlands. Four patients with renal failure whose heel prick tests were positive for CF as defined by raised levels of immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) are described. Both cystic fibrosis transmembrane conductance regulator (CFTR) DNA analysis and sweat tests were negative. Limited renal function can be a cause of false positive neonatal screening for CF using IRT and PAP.
authors.affiliation: Department of Paediatric Nephrology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, KE 04.113.1, Utrecht 3508 AB, The Netherlands. m.j.s.oosterveld@umcutrecht.nl
authors.forename: Michiel J S
authors.initials: MJ
authors.lastname: Oosterveld
authors.forename: Jaap V
authors.initials: JV
authors.lastname: Schilperoort
authors.forename: Marc R
authors.initials: MR
authors.lastname: Lilien
authors.forename: Hubertus G M
authors.initials: HG
authors.lastname: Arets
mesh_terms: D000951:Antigens, Neoplasm / Q000097:blood; D015415:Biomarkers / Q000097:blood; D014408:Biomarkers, Tumor / Q000097:blood; D003550:Cystic Fibrosis / Q000175:diagnosis*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005189:False Positive Reactions; D006801:Humans; D007231:Infant, Newborn; D037181:Lectins, C-Type / Q000097:blood; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D000073718:Pancreatitis-Associated Proteins; D051437:Renal Insufficiency / Q000097:blood*; D014362:Trypsinogen / Q000097:blood
chemical_list: D000951:Antigens, Neoplasm; D015415:Biomarkers; D014408:Biomarkers, Tumor; D037181:Lectins, C-Type; D000073718:Pancreatitis-Associated Proteins; C000612141:REG3A protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen