Halderman Ashleigh A, Lee Stella, London Nyall R, Day Andrew, Jain Raksha, Moore John A, Lin Sandra Y
Department of Otolaryngology Head and Neck Surgery, Dallas, Texas.
Department of Otolaryngology Head and Neck Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Laryngoscope. 2019 Apr;129(4):788-793. doi: 10.1002/lary.27595. Epub 2018 Dec 14.
Understanding of how specific mutations impact the cystic fibrosis transmembrane conductance regulator (CFTR) protein has given rise to the classification of CF patients into low-risk and high-risk genotypes. Few prior studies have investigated differences in sinonasal disease between low-risk and high-risk CF genotypes. This multi-institutional review aimed to evaluate radiographic sinus disease severity based on genotype.
A review was conducted on adult patients with CF evaluated between 2005 to 2017 at three academic institutions. Data including age, gender, CFTR mutation, and presence of a maxillofacial/sinus computed tomography scan was collected. A modified Lund-Mackay score (MLMS) was assigned to each scan, and the presence of sinus aplasia or hypoplasia was determined. Patients were further grouped depending on genotype into low- or high-risk for comparison.
A total of 126 patients were included with 99 patients in the high-risk and 21 in the low-risk groups. The high-risk group had significantly higher MLMS than the low-risk group (mean 13.88 vs. 8.06, P < 0.0001, 95% CI -8.196 to -3.462) The rate of frontal (P < 0.01), maxillary (P = 0.04), and sphenoid (P < 0.001) hypoplasia/aplasia was significantly higher in high-risk patients compared to low-risk.
This is one of the largest studies to date evaluating the impact of CF genotype on paranasal sinus development and disease. Genotype appears to impact sinonasal disease severity and also potentially paranasal sinus cavity development to a degree, although the exact mechanism is unknown.
4 Laryngoscope, 129:788-793, 2019.
对特定突变如何影响囊性纤维化跨膜传导调节因子（CFTR）蛋白的理解，促使将囊性纤维化（CF）患者分为低风险和高风险基因型。此前很少有研究调查低风险和高风险CF基因型患者鼻窦疾病的差异。这项多机构综述旨在根据基因型评估鼻窦疾病的影像学严重程度。
对2005年至2017年在三家学术机构接受评估的成年CF患者进行综述。收集的数据包括年龄、性别、CFTR突变以及是否存在颌面/鼻窦计算机断层扫描。为每次扫描指定一个改良的Lund-Mackay评分（MLMS），并确定鼻窦发育不全或发育不良的情况。根据基因型将患者进一步分为低风险或高风险组进行比较。
共纳入126例患者，其中高风险组99例，低风险组21例。高风险组的MLMS显著高于低风险组（平均13.88对8.06，P < 0.0001，95%可信区间-8.196至-3.462）。与低风险患者相比，高风险患者额窦（P < 0.01）、上颌窦（P = 0.04）和蝶窦（P < 0.001）发育不全/发育不良的发生率显著更高。
这是迄今为止评估CF基因型对鼻窦发育和疾病影响的最大规模研究之一。基因型似乎会影响鼻窦疾病的严重程度，并且在一定程度上也可能影响鼻窦腔的发育，尽管确切机制尚不清楚。
4 喉镜，129:788 - 793，2019年。
