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Measurement of Ion Transport Function in Rectal Biopsies

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Cystic Fibrosis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 741))

Abstract

Cystic fibrosis (CF) is caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR functions as an anion channel and is known to interact with a number of other cellular proteins involved in ion transport. To date more than 1,800 mutations are known, most of which result in various degrees of impaired transport function of the gene product. Due to the high inter-individual variability of disease onset and progression, CF still is a diagnostic challenge. Implemented almost 20 years ago, the measurement of electrolyte transport function of rectal biopsies is a useful ex vivo tool to diagnose CF. In this chapter we will review the different approaches to perform ion transport measurements and try to highlight the advantages and limitations of these techniques.

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Acknowledgments

MJH acknowledges the generous support from Mukoviszidose e.V. (N03/07), Innovative Medizinische Förderung Münster (HU 1 1 01 03), and EuroCare CF (LSHM-CT-2005-018932). The expert technical help of Tatjana v. Massenbach is highly appreciated.

ND acknowledges the financial support from Christiane Herzog Stiftung and Mukoviszidose e.V. ND and IB acknowledge the cooperation within the ECFS Diagnostic Network Working Group and IB acknowledges R.A. de Nooijer for technical assistance with NPD.

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Authors and Affiliations

  1. Pharmacy, University Medical Center Freiburg, D-79106, Freiburg, Germany

    Martin J. Hug

  2. Cystic Fibrosis Center, Pediatric Pulmonology and Neonatology, Medizinische Hochschule Hannover, D-30625, Hannover, Germany

    Nico Derichs

  3. CFTR Biomarker Center, Christiane-Herzog-Zentrum für Mukoviszidose, Charité Universitätsmedizin Berlin, D-13353, Berlin, Germany

    Nico Derichs

  4. Department of Pulmonology and Tuberculosis, University Medical Center Utrecht, 3584CX, Utrecht, The Netherlands

    Inez Bronsveld

  5. Department of Pediatrics, University of Alabama, 35233, Birmingham, AL, USA

    Jean Paul Clancy

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  1. Martin J. Hug
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  2. Nico Derichs
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  3. Inez Bronsveld
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  4. Jean Paul Clancy
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Correspondence to Martin J. Hug .

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Editors and Affiliations

  1. Faculty of Sciences, Centre for Biodiversity & Functional, University of Lisboa, Campo Grande, Lisboa, 1749-016, Portugal

    Margarida D. Amaral

  2. , Department of Physiology, University of Regensburg, Universitätsstr. 31, Regensburg, 93053, Germany

    Karl Kunzelmann

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Hug, M.J., Derichs, N., Bronsveld, I., Clancy, J.P. (2011). Measurement of Ion Transport Function in Rectal Biopsies. In: Amaral, M., Kunzelmann, K. (eds) Cystic Fibrosis. Methods in Molecular Biology, vol 741. Humana Press. https://doi.org/10.1007/978-1-61779-117-8_7

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  • DOI: https://doi.org/10.1007/978-1-61779-117-8_7

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-61779-116-1

  • Online ISBN: 978-1-61779-117-8

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