The Cystic Fibrosis Conductance Regulator Gene Exon Sequence is Normal in a Patient with Edematous Eosinophilic Nasal Polyps

Bucholtz, Gerald A.; Ejercito, Victor S.; Burmester, James K.

doi:10.2500/105065899781389795

Cited by 4 publications

(1 citation statement)

References 17 publications

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“…The intriguing possibility that mutations of the cystic brosis transmembrane regulator (CFTR) gene in phenotypically non-CF individuals (individuals with no other evidence of the disease) are responsible for nasal polyps has been examined but no association has been found. [25][26][27]…”

Section: Pathogenesis and Aetiology Geneticsmentioning

confidence: 99%

Nasal polyps: Still more questions than answers

2003

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Nasal polyps are common, affecting one to four per cent of the population. Their cause, however, remains unknown and it is possible that it is not the same in all patients. They have a clear association with asthma, aspirin sensitivity and cystic fibrosis. Histologically they demonstrate large quantities of extracellular fluid, mast cell degranulation and an infiltrate of inflammatory cells, usually eosinophils. While this appearance would suggest an allergic pathology there is little conclusive evidence to support this in most patients. There is, however, some preliminary evidence to suggest that a local allergic process could be the cause. While allergic fungal sinusitis is a well defined clinical entity with recognized diagnostic criteria the ubiquitous nature of fungal spores makes the role of fungal infection in patients with nasal polyps difficult to determine and currently this remains unclear. Surgical treatment of nasal polyps has declined in recent years as the benefits of medical treatment have become increasingly recognized. There is good evidence to support the use of corticosteroids both as a primary and post-operative treatment in the majority of patients. Other medical treatments require further evaluation before they could be considered a viable alternative to steroids. Assessment of the literature regarding surgical intervention is difficult and there is little evidence on which to base a surgical treatment philosophy. The authors believe that an endoscopic approach using a microdebrider facilitates accurate removal of polyps with preservation of normal anatomy.

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Section: Pathogenesis and Aetiology Geneticsmentioning

confidence: 99%

Nasal polyps: Still more questions than answers

2003

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

Kostuch

Klatka

Semczuk

et al. 2005

Eur Arch Otorhinolaryngol

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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.

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