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Complications associated with symptomatic diagnosis in infants with cystic fibrosis

Frank J Accurso1, Marci K Sontag, Jeffrey S Wagener

  • 1Department of Pediatrics, University of Colorado Health Sciences Center, the Children's Hospital, Denver, Colorado 80218, USA.

The Journal of Pediatrics
|October 6, 2005
PubMed

Insights

Children diagnosed with cystic fibrosis (CF) symptomatically experience more complications and hospitalizations than those diagnosed via newborn screening. Early detection through newborn screening (NBS) significantly reduces adverse outcomes in CF patients.

Area of Science:

  • Pediatric Pulmonology
  • Genetics and Genetic Diseases
  • Public Health

Background:

  • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
  • Diagnosis timing significantly impacts patient outcomes.
  • Understanding complication rates by diagnosis mode is crucial for optimizing care.

Purpose of the Study:

  • To compare complication and hospitalization rates in children with CF based on their diagnosis method.
  • To evaluate the long-term impact of diagnosis timing on CF-related health issues.

Main Methods:

  • Retrospective analysis of the Cystic Fibrosis Foundation National Patient Registry (2000-2002).
  • Categorization of CF cases into symptomatic diagnosis (SYMP), prenatal diagnosis (PRE), newborn screening (NBS), and meconium ileus (MI).
  • Definition of complications including growth failure, Pseudomonas aeruginosa infection, and electrolyte/protein abnormalities.

Main Results:

  • Infants diagnosed symptomatically (SYMP) had a 70% complication/hospitalization rate versus 29% for NBS (P < .0001).
  • Symptomatic diagnosis correlated with higher rates of mucoid Pseudomonas aeruginosa and reduced pulmonary function (FEV1) compared to NBS.
  • These disparities persisted into adolescence.

Conclusions:

  • Symptomatic diagnosis of CF is linked to substantially higher complication rates throughout childhood and adolescence compared to newborn screening.
  • Newborn screening for CF facilitates earlier intervention and potentially better long-term outcomes.
Abstract

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