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Thorax 1999;54:278-281 doi:10.1136/thx.54.3.278
  • Case Report

Clinical presentation of exclusive cystic fibrosis lung disease

  1. Inez Bronsvelda,
  2. Jan Bijmana,
  3. Frauke Mekusc,
  4. Manfred Ballmannc,
  5. Henk J Veezeb,
  6. Burkhard Tümmlerc
  1. aDepartments of Paediatrics and Cell Biology, Erasmus University Rotterdam, Rotterdam, The Netherlands, bDepartment of Neonatology, Sophia Children’s Hospital, Rotterdam, The Netherlands, cDepartment of Paediatrics and the Clinical CF Research Group, Medizinische Hochschule Hannover, D-30623 Hannover, Germany
  1. Dr I Bronsveld.
  • Received 6 April 1998
  • Revision requested 23 July 1998
  • Revised 9 October 1998
  • Accepted 12 October 1998

Abstract

The diagnosis of cystic fibrosis (CF) is based on the occurrence of two mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and on assays that measure the basic defect of abnormal chloride transport in the affected organs. However, in cases of atypical CF not all diagnostic tests may be positive. We present a patient with an atypical CF phenotype in whom the only presenting symptom was severe CF-like lung disease substantiated by an abnormal nasal potential difference. Genetic analysis showed that the patient was a symptomatic heterozygote, which suggests that one lesion in theCFTR gene may be sufficient to cause CF-like lung disease.

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