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Jejunoileal atresia and cystic fibrosis: don't miss it

Carolien L Siersma1, Bart L Rottier, Jan Bf Hulscher

  • 1Department of Pediatrics, Beatrix Children's Hospital, CA51 Hanzeplein 1, PO Box 30001, 9700 RB, Groningen, The Netherlands.

BMC Research Notes
|December 11, 2012
PubMed

Insights

Cystic fibrosis (CF) is often missed in newborns with jejunal and ileal atresia (JIA). Early CFTR mutation testing in JIA infants improves outcomes and should be standard practice.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Neonatology

Background:

  • Cystic fibrosis (CF) prevalence is higher in infants with jejunal and ileal atresia (JIA).
  • Current practice often overlooks CFTR mutation testing in newborns with JIA.
  • Leading textbooks do not list JIA as a presenting feature of CF.

Purpose of the Study:

  • To investigate the diagnostic practices for cystic fibrosis in infants with jejunal and ileal atresia.
  • To evaluate the association between CF testing and clinical outcomes in JIA patients.
  • To advocate for improved diagnostic algorithms for CF in neonates with JIA.

Main Methods:

  • Retrospective review of 50 patients with JIA over 18 years (1991-2008).
  • Comparison of patients tested for CF (n=18) versus those not tested (n=32).
  • Logistic regression and nonparametric tests used for statistical analysis (p<0.05).

Main Results:

  • Only 36% of JIA infants were tested for CF.
  • Patients tested for CF showed significantly higher rates of postoperative bilious retention and complications.
  • CF was confirmed in 8% of the evaluated JIA cases.

Conclusions:

  • CF testing is not consistently performed in newborns with JIA.
  • Timely CF diagnosis and presymptomatic treatment significantly improve patient morbidity and mortality.
  • Recommend sweat testing for term infants and CFTR DNA testing for preterm infants with JIA.
Abstract

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