Kostuch Marzena, Klatka Janusz, Semczuk Andrzej, Wojcierowski Jacek, Kulczycki Lucas, Oleszczuk Jan
Department of Obstetrics and Perinatology, Lublin University School of Medicine, Poland.
Eur Arch Otorhinolaryngol. 2005 Dec;262(12):982-6. doi: 10.1007/s00405-005-0927-0. Epub 2005 Jun 17.
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 [DeltaF508, G542X, N1303 K, 1717-1 (G to A), W1282X, G551D, R553X and DeltaI507] 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 DeltaF508. In the control group, only 1 of 70 (1.4%) cases showed DeltaF508 heterozygosity. The frequency of DeltaF508 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 DeltaF508 may exist in a selected group of patients affected by nasal polyps, who have no other clinical features of CF.
鼻息肉是一种发生在鼻腔和鼻窦的慢性炎症性疾病，由多种不同原因引起，包括囊性纤维化（CF）。44例鼻息肉患者被收治于波兰卢布林医科大学耳鼻喉科，并通过应用INNO-LIPA CF2测试条对最常见的CFTR突变[DeltaF508、G542X、N1303K、1717-1（G→A）、W1282X、G551D、R553X和DeltaI507]进行筛查。所有患者均无提示CF诊断的症状，包括汗液试验阴性。我们在44例患者中检测到5例（11.4%）CFTR突变携带者。所有该检测呈阳性的患者均为DeltaF508杂合子携带者。在对照组中，70例中仅有1例（1.4%）显示DeltaF508杂合性。本文报道的DeltaF508突变频率显著高于对照组（P = 0.0312）以及波兰普通人群（P = 0.0059）。我们的数据表明，DeltaF508的杂合表现可能存在于一组无其他CF临床特征的鼻息肉患者中。
