title: Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).
abstract: BACKGROUND
  In term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported.
  
  
  METHODS
  Two extremely preterm twin infants (26 weeks of gestation) born from a Malaysian mother and a Caucasian father were presented with typical signs of meconium ileus. Despite immediate surgery both displayed a unique and finally lethal course. Mutation analysis revealed a novel, probably pathogenic cystic fibrosis mutation, p.Cys524Tyr. The novel mutation might explain the severity of disease next to typical sequelae of prematurity.
  
  
  CONCLUSIONS
  Preterm neonates with meconium ileus have to be evaluated for cystic fibrosis beyond ethnical boundaries, but may take devastating clinical courses despite early treatment. The novel, potentially pathogenic CF mutation p.Cys524Tyr might be associated with severe meconium ileus in neonates. Disease-modifying loci are important targets for intestinal comorbidity of cystic fibrosis.
authors.affiliation: Department of Pediatrics, Albert-Ludwigs-University of Freiburg, Mathildenstrasse 1, D 79106 Freiburg, Germany. alexander.puzik@uniklinik-freiburg.de.
authors.forename: Alexander
authors.initials: A
authors.lastname: Puzik
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Morris-Rosendahl
authors.forename: Klaus-Dieter
authors.initials: KD
authors.lastname: Rückauer
authors.forename: Claudia
authors.initials: C
authors.lastname: Otto
authors.forename: Peter
authors.initials: P
authors.lastname: Gessler
authors.forename: Ulrich
authors.initials: U
authors.lastname: Saueressig
authors.forename: Roland
authors.initials: R
authors.lastname: Hentschel
mesh_terms: D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D045823:Ileus / Q000235:genetics*; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000235:genetics*; D008297:Male; D008470:Meconium; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator