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Analysis of most common CFTR mutations in patients affected by nasal polyps

  • Rhinology
  • Published:
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Abstract

Nasal polyps, a chronic inflammatory disease occurring in the nose and para-nasal sinuses, result from several different causes, including cystic fibrosis (CF). Forty-four patients affected by nasal polyps were admitted to the Department of Otolaryngology, Lublin University School of Medicine, Lublin, Poland, and screened for the most-commonly identified CFTR mutations [ΔF508, G542X, N1303 K, 1717–1 (G to A), W1282X, G551D, R553X and ΔI507] by applying the INNO-LIPA CF2 test strips. None of the patients had symptoms that allowed for the diagnosis of CF, including the negative sweat test. We detected 5 of 44 (11.4%) carriers of the CFTR mutations. All patients positive for this test were heterozygous carriers of ΔF508. In the control group, only 1 of 70 (1.4%) cases showed ΔF508 heterozygosity. The frequency of ΔF508 mutation herein reported was significantly higher than in the control group ( P =0.0312) and in the general Polish population as well ( P =0.0059). Our data suggest that a heterozygous manifestation of the ΔF508 may exist in a selected group of patients affected by nasal polyps, who have no other clinical features of CF.

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Acknowledgments

Financial support from the Lublin University School of Medicine, Lublin, Poland, is gratefully acknowledged.

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Authors and Affiliations

  1. Department of Obstetrics and Perinatology, Lublin University School of Medicine, Lublin, Poland

    Marzena Kostuch & Jan Oleszczuk

  2. Department of Otolaryngology and Head and Neck Surgery, Lublin University School of Medicine, 8 Jaczewski str., 20-954, Lublin, Poland

    Janusz Klatka

  3. Second Department of Gynecology, Lublin University School of Medicine, Lublin, Poland

    Andrzej Semczuk

  4. Department of Human Genetics, Lublin University School of Medicine, Lublin, Poland

    Jacek Wojcierowski

  5. Georgetown University Hospital, Washington, DC, USA

    Lucas Kulczycki

Authors
  1. Marzena Kostuch
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  2. Janusz Klatka
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  3. Andrzej Semczuk
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  4. Jacek Wojcierowski
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  5. Lucas Kulczycki
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  6. Jan Oleszczuk
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Correspondence to Janusz Klatka.

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Kostuch, M., Klatka, J., Semczuk, A. et al. Analysis of most common CFTR mutations in patients affected by nasal polyps. Eur Arch Otorhinolaryngol 262, 982–986 (2005). https://doi.org/10.1007/s00405-005-0927-0

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  • DOI: https://doi.org/10.1007/s00405-005-0927-0

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