The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic fibrosis (CF) patients can occur in some individuals with ABPA. Reports of familial occurrence of ABPA and increased incidence in CF patients suggest a possible genetic basis for the disease. To test this possibility, the entire coding region of the cystic fibrosis transmembrane regulator (CFTR) gene was analyzed in 11 individuals who met strict criteria for the diagnosis of ABPA and had normal sweat electrolytes (< or = 40 mmol/liter). One patient carried two CF mutations (deltaF508/R347H), and five were found to carry one CF mutation (four deltaF508; one R117H). The frequency of the deltaF508 mutation in patients with ABPA was significantly higher than in 53 Caucasian patients with chronic bronchitis (P < .0003) and the general population (P < .003). These results suggest that CFTR plays an etiologic role in a subset of ABPA patients.
- MeSH
- aspergilóza alergická bronchopulmonální etiologie genetika MeSH
- bronchitida genetika MeSH
- chronická nemoc MeSH
- cystická fibróza genetika MeSH
- dospělí MeSH
- fenotyp MeSH
- genotyp MeSH
- heterozygot MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace * MeSH
- protein CFTR * genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Research Support, U.S. Gov't, P.H.S. MeSH
2nd ed. VII, 301 s. : bar. fot., obr., tab., grafy ; 31 cm
Immunology and allergy clinics of North America, ISSN 0889-8561 vol. 7, no. 1, April 1987
xii, 178 s. : il., tab., grafy ; 23 cm
- MeSH
- bolesti hlavy MeSH
- celoroční alergická rýma MeSH
- nemoci dýchací soustavy MeSH
- nosní polypy MeSH
- Publikační typ
- sborníky MeSH
- Konspekt
- Patologie. Klinická medicína
- NLK Obory
- alergologie a imunologie
- pneumologie a ftizeologie
