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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride

Harpreet Pall1, Julian Zielenski, Maureen M Jonas

  • 1Division of Pediatric Gastroenterology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA. harpreet.pall@childrens.harvard.edu

The Journal of Pediatrics
|August 28, 2007
PubMed

Insights

Childhood primary sclerosing cholangitis (PSC) is linked to impaired cystic fibrosis transmembrane conductance regulator (CFTR) function. This study found significant ion transport dysfunction in children with PSC, suggesting a role for CFTR in the disease.

Area of Science:

  • Pediatric Gastroenterology
  • Hepatology
  • Genetics

Background:

  • Primary sclerosing cholangitis (PSC) is a chronic liver disease of unknown etiology.
  • Cystic fibrosis transmembrane conductance regulator (CFTR) plays a crucial role in ion and fluid transport.
  • Dysfunction of CFTR is implicated in various diseases, including cystic fibrosis.

Purpose of the Study:

  • To investigate the association between childhood-onset primary sclerosing cholangitis (PSC) and abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR).
  • To assess CFTR-mediated ion transport function in children diagnosed with PSC.

Main Methods:

  • Twenty children with PSC and 14 disease control subjects (inflammatory bowel disease without liver disease) were recruited.
  • Testing included sweat chloride concentration, nasal transmembrane potential difference, and comprehensive CFTR gene analysis.
  • Statistical significance was determined using t tests.

Main Results:

  • CFTR chloride channel function was markedly diminished in PSC subjects compared to controls (-8.6 +/- 8.2 mV vs -17.8 +/- 9.7 mV, P = .008).
  • Subjects with PSC exhibited higher sweat chloride concentrations than controls (20.8 +/- 3.4 mmol/L vs 12.0 +/- 1.6 mmol/L, P = .045).
  • CFTR mutations or variants were found in 26.3% of PSC subjects and 42.9% of controls.

Conclusions:

  • Childhood PSC is characterized by a high prevalence of CFTR-mediated ion transport dysfunction.
  • These findings suggest a potential link between CFTR abnormalities and the pathogenesis of PSC in children.
  • Further research is warranted to explore the therapeutic implications of CFTR modulation in PSC.
Abstract

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