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Published on: October 22, 2013
Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers
Hugo R De Jonge1, Manfred Ballmann, Henk Veeze
1Departments of Paediatric Gastroenterology and Biochemistry, Erasmus University Medical Centre, P.O. Box 1738, Rotterdam, 3000DR The Netherlands. h.dejonge@erasmusmc.nl
Insights
Intestinal current measurements (ICM) diagnose cystic fibrosis (CF) by analyzing ion transport in rectal biopsies. This method helps classify CF patients, especially those with unclear sweat tests or CFTR mutations.
Area of Science:
- Gastroenterology
- Pulmonology
- Genetics
Background:
- Cystic Fibrosis (CF) diagnosis relies on sweat tests and genetic analysis.
- Some individuals present with CF-like symptoms but have ambiguous test results.
- Accurate diagnosis is crucial for timely and appropriate CF management.
Purpose of the Study:
- To present the intestinal current measurements (ICM) protocol for ex vivo CF diagnosis.
- To demonstrate the interpretation of ICM tracings for CF detection.
- To highlight ICM's utility in classifying CF patients with equivocal diagnostic markers.
Main Methods:
- Utilizing rectal suction biopsies for ex vivo analysis.
- Performing intestinal current measurements (ICM) to assess electrogenic transepithelial ion transport.
- Applying pharmacological criteria to differentiate CFTR-mediated and alternative anion channel secretion.
Main Results:
- ICM effectively registers CF-induced alterations in ion transport (Cl-, HCO3-, K+).
- The technique distinguishes CFTR-dependent chloride secretion from other pathways.
- ICM aids in classifying individuals with CF-like features and uncertain sweat test or CFTR mutation status.
Conclusions:
- Intestinal current measurements (ICM) offer a valuable tool for diagnosing cystic fibrosis.
- ICM provides a functional assessment of ion transport, complementing genetic and sweat tests.
- This method is particularly beneficial for complex CF cases requiring precise classification.
Abstract:
Intestinal current measurements (ICM) on rectal suction biopsies are a tool for the ex vivo diagnosis of classical and atypical cystic fibrosis (CF). We present the basic ICM protocol, typical tracings and their interpretation. The ICM technique allows the registration of CF-induced changes in electrogenic transepithelial ion transport (Cl-, HCO3-, K+) in a Cl- secretory epithelium, and on the basis of pharmacological criteria, is able to discriminate between CFTR-mediated Cl- secretion and secretion through alternative anion channels. ICM is particularly useful for the classification of individuals with CF-like clinical features with equivocal sweat test values and/or no or one identifiable CFTR mutation.
