When CFSPID becomes CF

Daniella Ginsburg; Choo Phei Wee; Maria Carmen Reyes; John J Brewington; Danieli B Salinas

doi:10.1016/j.jcf.2021.06.012

When CFSPID becomes CF

J Cyst Fibros. 2022 Jan;21(1):e23-e27. doi: 10.1016/j.jcf.2021.06.012. Epub 2021 Oct 29.

Authors

Daniella Ginsburg¹, Choo Phei Wee², Maria Carmen Reyes², John J Brewington³, Danieli B Salinas²

Affiliations

¹ Department 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. Electronic address: dginsburg@chla.usc.edu.
² Department 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.
³ Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

PMID: 34756682
DOI: 10.1016/j.jcf.2021.06.012

Abstract

There has been a growing number of infants identified as CRMS/CFSPID in countries applying genetic testing as part of cystic fibrosis (CF) newborn screening. Currently there are neither standardized protocols for follow up beyond infancy, nor established predictors to stratify this population as high or low risk of reclassification to CF or CFTR-related disorder. We report a series of 10 children who reclassified, including eight carrying CFTR variants of varying clinical consequence and seven with initial sweat chloride measurements <30 mmol/L. The overall increase in sweat chloride concentration was 5.8 mmol/L/year. Pseudomonas aeruginosa was isolated from respiratory cultures in five subjects, and reclassification was aided by human nasal epithelial cultures in two cases. In this center's experience, 6% of all CRMS/CFSPID referrals reclassified to CF over a 12-year period. The rate of sweat chloride increase, genotype, and CFTR functional assay can potentially be used as prognostic tools in the CRMS/CFSPID population.

Keywords: CFSPID; CRMS; Diagnosis; newborn screening; reclassification; sweat chloride.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Child
Child, Preschool
Cystic Fibrosis / diagnosis*
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Disease Progression*
Female
Genetic Testing / methods*
Humans
Infant
Infant, Newborn
Male
Neonatal Screening / methods*

Substances

Cystic Fibrosis Transmembrane Conductance Regulator