Serum CA 19-9 levels as a diagnostic marker in cystic fibrosis patients with borderline sweat tests

A. Augarten, H. Berman, M. Aviram, A. Diver-Habber, H. Akons, L. Ben Tur, H. Blau, E. Kerem, J. Rivlin, D. Katznelson, A. Szeinberg, B. S. Kerem, L. Theodor, G. Paret, Y. Yahav

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Patients with normal or borderline sweat tests present a diagnostic challenge. In spite of the availability of genetic analysis and measurement of nasal potential difference, there is still uncertainty in diagnosing cystic fibrosis in some patients. CA19-9 is a tumor-associated antigen whose levels were previously found to be elevated in some cystic fibrosis patients. We investigated whether serum CA 19-9 levels can contribute to establishing the diagnosis of cystic fibrosis in patients with a borderline sweat test, and evaluated the influence of different clinical variables on CA 19-9 levels. Serum CA 19-9 levels were measured in 82 cystic fibrosis patients grouped according to their genotype and in 38 healthy individuals. Group A included 50 patients who carried two mutations previously found to be associated with a pathological sweat test and pancreatic insufficiency (ΔF508, W1282X, G542X, N1303K, and S549R). Group B included 13 compound heterozygote cystic fibrosis patients who carried one mutation known to cause mild disease with a borderline or normal sweat test and pancreatic sufficiency (3849+10kb C→T, 5T). Group C included 38 normal controls. Nineteen cystic fibrosis patients carried at least one unidentified mutation. An association between CA19-9 levels and age, pulmonary function, pancreatic status, sweat chloride, previous pancreatitis, serum lipase, meconium ileus, distal intestinal obstruction, liver disease, and diabetes was investigated. The distribution of CA 19-9 levels was significantly different between the three groups (p<0.01); high CA 19-9 levels were found in 60% (30/50) of group A patients and in 46.6% (6/13) of group B patients, but in only 5.2% (2/38) of the controls. CA19-9 levels were inversely related to forced expiratory volume in 1 s, while no association was found with the other clinical parameters examined. Our findings suggest that the serum CA 19-9 in cystic fibrosis patients originates in the respiratory system, and has a useful ancillary role, particularly when diagnostic uncertainty exists. Hence, the diagnosis of cystic fibrosis should be considered in patients with borderline sweat tests and high CA 19-9 levels, but normal levels do not exclude cystic fibrosis.

Original languageEnglish
Pages (from-to)119-123
Number of pages5
JournalClinical and Experimental Medicine
Volume3
Issue number2
DOIs
StatePublished - 1 Sep 2003
Externally publishedYes

Keywords

  • Borderline sweat test
  • CA 19-9
  • Cystic fibrosis

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology (all)

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