Abstract：
BACKGROUND: The clinical spectrum of Aspergillus fumigatus diseases in cystic fibrosis (CF) patients, including allergic bronchopulmonary aspergillosis (ABPA) and Aspergillus fumigatus chronic colonization, has recently gained attention due to its association with the progression of lung disease. Our aim was to examine whether there is a difference on pathogenic variant frequencies of the CFTR gene between CF patients with ABPA and those with A. fumigatus chronic colonization.
METHODS: Greek CF patients diagnosed with ABPA and/or A. fumigatus chronic colonization were grouped according to their CFTR genotype. Patients with \"minimal\" CFTR function were defined as carrying a combination of class I or II pathogenic variants, while patients with \"residual\" function as carrying at least one class III, IV, V or VI pathogenic variant.
RESULTS: Fifty-four CF patients were included and all except one were defined as having \"minimal\" CFTR function. Among the 108 CFTR alleles, 69 (63.9%) of pathogenic variants belonged to class II, and 32 (29.6%) to class I. Five patients had a history of both ABPA and A. fumigatus chronic colonization. No significant difference was detected among patients diagnosed only with ABPA (n = 29) and those who had only a positive history of A. fumigatus chronic colonization (n = 20). The median age of ABPA diagnosis was significantly lower than the median age of A. fumigatus chronic colonization (P = 0.011), while no significant difference was detected on median FEV1% predicted.
CONCLUSIONS: No significant differences were detected in the type of CFTR pathogenic variants among patients with ABPA and those with A. fumigatus colonization. Similar studies should be performed in larger CF populations of different ethnic origin to further confirm our results.
METHODS: Greek CF patients diagnosed with ABPA and/or A. fumigatus chronic colonization were grouped according to their CFTR genotype. Patients with \"minimal\" CFTR function were defined as carrying a combination of class I or II pathogenic variants, while patients with \"residual\" function as carrying at least one class III, IV, V or VI pathogenic variant.
RESULTS: Fifty-four CF patients were included and all except one were defined as having \"minimal\" CFTR function. Among the 108 CFTR alleles, 69 (63.9%) of pathogenic variants belonged to class II, and 32 (29.6%) to class I. Five patients had a history of both ABPA and A. fumigatus chronic colonization. No significant difference was detected among patients diagnosed only with ABPA (n = 29) and those who had only a positive history of A. fumigatus chronic colonization (n = 20). The median age of ABPA diagnosis was significantly lower than the median age of A. fumigatus chronic colonization (P = 0.011), while no significant difference was detected on median FEV1% predicted.
CONCLUSIONS: No significant differences were detected in the type of CFTR pathogenic variants among patients with ABPA and those with A. fumigatus colonization. Similar studies should be performed in larger CF populations of different ethnic origin to further confirm our results.
摘要：
背景：囊性纤维化（CF）患者中烟曲霉病的临床谱，包括过敏性支气管肺曲霉病（ABPA）和烟曲霉慢性定植，由于其与肺部疾病的进展有关，最近引起了人们的关注。我们的目的是检查ABPACF患者与烟曲霉慢性定植患者之间CFTR基因的致病变异频率是否存在差异。
方法：根据CFTR基因型对诊断为ABPA和/或烟曲霉慢性定植的希腊CF患者进行分组。具有“最小”CFTR功能的患者被定义为携带I类或II类致病变体的组合，而具有“残留”功能的患者至少携带一个III类，IV,V或VI致病变体。
结果：纳入54例CF患者，除1例外，所有患者均被定义为具有“最小”CFTR功能。在108个CFTR等位基因中，69(63.9%)的致病变异属于II类，和32（29.6％）至I级。5例患者有ABPA和烟曲霉慢性定植史。在仅诊断为ABPA的患者（n=29）和仅有烟曲霉慢性定植阳性病史的患者（n=20）之间没有显着差异。ABPA诊断的中位年龄显著低于烟曲霉慢性定植的中位年龄(P=0.011),而FEV1%预测的中位数没有检测到显著差异。
结论：在ABPA患者和烟曲霉定植患者中，CFTR致病变异类型没有检测到显著差异。应该在不同种族的较大CF人群中进行类似的研究，以进一步证实我们的结果。
方法：根据CFTR基因型对诊断为ABPA和/或烟曲霉慢性定植的希腊CF患者进行分组。具有“最小”CFTR功能的患者被定义为携带I类或II类致病变体的组合，而具有“残留”功能的患者至少携带一个III类，IV,V或VI致病变体。
结果：纳入54例CF患者，除1例外，所有患者均被定义为具有“最小”CFTR功能。在108个CFTR等位基因中，69(63.9%)的致病变异属于II类，和32（29.6％）至I级。5例患者有ABPA和烟曲霉慢性定植史。在仅诊断为ABPA的患者（n=29）和仅有烟曲霉慢性定植阳性病史的患者（n=20）之间没有显着差异。ABPA诊断的中位年龄显著低于烟曲霉慢性定植的中位年龄(P=0.011),而FEV1%预测的中位数没有检测到显著差异。
结论：在ABPA患者和烟曲霉定植患者中，CFTR致病变异类型没有检测到显著差异。应该在不同种族的较大CF人群中进行类似的研究，以进一步证实我们的结果。
