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When CFSPID becomes CF

Daniella Ginsburg1, Choo Phei Wee1, Maria Carmen Reyes1

  • 1Department of Pediatrics, Division of Pediatric Pulmonology, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS 83, Los Angeles, California, USA.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|November 10, 2021
PubMed

Insights

Infants with cystic fibrosis (CF) screen positive, inconclusive diagnosis (CFSPID) may reclassify to CF. Monitoring sweat chloride levels and CFTR gene variants can help predict outcomes for these children.

Area of Science:

  • Pediatric Pulmonology
  • Clinical Genetics
  • Newborn Screening

Background:

  • Growing number of infants identified with CFSPID/CF-related conditions (CRMS) due to newborn screening.
  • Lack of standardized follow-up protocols and risk stratification for CRMS/CFSPID infants.
  • Need for prognostic tools to predict reclassification to cystic fibrosis (CF) or CFTR-related disorders.

Purpose of the Study:

  • To report on a cohort of children with CRMS/CFSPID who reclassified to CF.
  • To identify potential predictors for reclassification in this population.
  • To evaluate the long-term outcomes and management strategies for CRMS/CFSPID.

Main Methods:

  • Retrospective case series of 10 children with CRMS/CFSPID who reclassified.
  • Analysis of sweat chloride concentration trends, CFTR genotypes, and clinical data.
  • Inclusion of Pseudomonas aeruginosa isolation and human nasal epithelial culture results.

Main Results:

  • Six percent of CRMS/CFSPID referrals reclassified to CF over 12 years.
  • Eight children carried CFTR variants; seven had initial sweat chloride <30 mmol/L.
  • Average sweat chloride increase was 5.8 mmol/L/year; P. aeruginosa isolated in five subjects.

Conclusions:

  • Reclassification to CF occurs in a subset of CRMS/CFSPID infants.
  • Rate of sweat chloride increase, CFTR genotype, and functional assays may serve as prognostic tools.
  • Further research is needed to establish standardized risk stratification for CRMS/CFSPID patients.

Keywords:
CFSPIDCRMSDiagnosisnewborn screeningreclassificationsweat chloride

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