Related Experiment Video

Updated: Apr 15, 2026

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD
09:47

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference NPD

Published on: September 13, 2018

17.5K

Long-term outcomes of children with intermediate sweat chloride values in infancy

Tyler Groves1, Paul Robinson2, Veronica Wiley3

  • 1Sydney Medical School, University of Sydney, New South Wales, Australia; Department of Respiratory Medicine, The Children's Hospital at Westmead, New South Wales, Australia.

The Journal of Pediatrics
|March 28, 2015
PubMed

Insights

Approximately half of infants with intermediate sweat chloride values are diagnosed with cystic fibrosis (CF) later. This delayed CF diagnosis often presents with milder disease compared to newborn screening positive CF, highlighting the need for continued infant monitoring.

Area of Science:

  • Pediatrics
  • Genetics
  • Pulmonology

Background:

  • Intermediate sweat chloride values in newborns require careful follow-up for cystic fibrosis (CF).
  • Newborn screening (NBS) protocols identify infants at risk for CF, but some cases are diagnosed later.

Purpose of the Study:

  • To describe the clinical course of children with intermediate sweat chloride values.
  • To compare the outcomes of children with delayed CF diagnosis versus those identified through NBS.

Main Methods:

  • Retrospective review of children with intermediate sweat chloride values (30-59 mmol/L) over 15 years.
  • Matching patients with delayed CF diagnosis to NBS-positive CF patients (2:1 ratio).
  • Comparison of clinical outcomes including pancreatic insufficiency, bacterial colonization, lung function, and disease severity.

Main Results:

  • 48% of infants with intermediate sweat chloride values were later diagnosed with CF.
  • Delayed CF diagnosis was associated with significantly less pancreatic insufficiency and nonmucoid Pseudomonas aeruginosa colonization.
  • Milder obstructive lung disease and overall disease severity (Shwachman scores) were observed in delayed CF cases at 10 years.

Conclusions:

  • About half of infants with intermediate sweat chloride values develop CF.
  • Children with delayed CF diagnosis exhibit a milder clinical course in several aspects compared to NBS-positive CF.
  • Ongoing follow-up is crucial for infants identified with intermediate sweat chloride values.
Abstract

More Related Videos

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

88.5K
Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels05:31

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels

Published on: August 7, 2017

11.1K

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
1.1K
Development of Human Microbiota01:30

Development of Human Microbiota

The human microbiota begins developing at birth and undergoes continual change as we age. Infancy marks a critical period of microbial sensitivity, offering a “window of opportunity” during which beneficial microbes help mature the immune system. By age three, children typically develop a more stable and diverse microbial community. Newborns acquire microbes from their immediate environment; vaginal delivery favors maternal vaginal microbes, while cesarean births favor microbes from...
50
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
642
Socioemotional Development during Infancy01:30

Socioemotional Development during Infancy

Socio-emotional development in infancy is primarily shaped by early emotional responses and social connections, with temperament playing a central role. Temperament refers to the consistent patterns in an individual's emotional and behavioral responses, observable even in infancy. By examining temperament, researchers can better understand an infant's unique ways of interacting with the world, influencing subsequent personality and socio-emotional growth.
Primary Temperament Types
1.4K