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通过广泛基因分型阐明的未解决的严重慢性鼻窦炎

Unsolved severe chronic rhinosinusitis elucidated by extensive genotyping.

作者信息

Degrugillier Fanny, Simon Stéphanie, Aissat Abdel, Remus Natascha, Mekki Chadia, Decrouy Xavier, Hatton Aurélie, Hinzpeter Alexandre, Hoffmann Brice, Sermet-Gaudelus Isabelle, Callebaut Isabelle, Fanen Pascale, Prulière-Escabasse Virginie

机构信息

INSERM U955 IMRB, Team 5 Créteil France.

DHU Ageing Thorax Vessel Blood Créteil France.

出版信息

Clin Case Rep. 2019 Sep 27;7(11):2128-2134. doi: 10.1002/ccr3.2443. eCollection 2019 Nov.

DOI:10.1002/ccr3.2443
PMID:31788264
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6878083/
Abstract

Severe chronic rhinosinusitis in children should alert clinicians and extensive genotyping should be performed. We propose that thorough clinical and functional assessment in severe chronic rhinosinusitis is valuable to discover rare mutations which could be treated by CFTR correctors to postpone pulmonary infection.

摘要

儿童严重慢性鼻-鼻窦炎应引起临床医生的警惕，应进行广泛的基因分型。我们认为，对严重慢性鼻-鼻窦炎进行全面的临床和功能评估，对于发现可通过CFTR校正剂治疗以延缓肺部感染的罕见突变具有重要价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/ef728a24aba2/CCR3-7-2128-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/32086f24b40d/CCR3-7-2128-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/6dd7994a435d/CCR3-7-2128-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/619db8fa4252/CCR3-7-2128-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/ef728a24aba2/CCR3-7-2128-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/32086f24b40d/CCR3-7-2128-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/6dd7994a435d/CCR3-7-2128-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/619db8fa4252/CCR3-7-2128-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe6b/6878083/ef728a24aba2/CCR3-7-2128-g004.jpg

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本文引用的文献

1
Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor.接受依伐卡托治疗的非p.Gly551Asp门控突变囊性纤维化患者的CFTR功能测量变化及临床改善情况
J Cyst Fibros. 2017 Jan;16(1):45-48. doi: 10.1016/j.jcf.2016.08.006. Epub 2016 Sep 20.
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Problem-based learning discussion: Medical treatment of pediatric chronic rhinosinusitis.基于问题的学习讨论：小儿慢性鼻窦炎的医学治疗
Am J Rhinol Allergy. 2016 Mar-Apr;30(2):113-21. doi: 10.2500/ajra.2016.30.4270.
3
Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics.
分子动力学揭示的完全开放和关闭的囊性纤维化跨膜传导调节因子（CFTR）通道，具有来自细胞质的侧向通道以及F508区域的另一个位置。
Cell Mol Life Sci. 2015 Apr;72(7):1377-403. doi: 10.1007/s00018-014-1749-2. Epub 2014 Oct 7.
4
Bacteriology of the paranasal sinuses in pediatric cystic fibrosis patients.
Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):934-8. doi: 10.1016/j.ijporl.2012.02.043. Epub 2012 Apr 17.
5
EPOS 2012: European position paper on rhinosinusitis and nasal polyps 2012. A summary for otorhinolaryngologists.EPOS 2012：欧洲鼻窦炎和鼻息肉诊治指南 2012。供耳鼻喉科医生使用的摘要。
Rhinology. 2012 Mar;50(1):1-12. doi: 10.4193/Rhino12.000.
6
CT of the paranasal sinuses is not a valid indicator for sinus surgery in CF patients.鼻窦 CT 对 CF 患者的鼻窦手术不是一个有效的指标。
J Cyst Fibros. 2012 Mar;11(2):93-9. doi: 10.1016/j.jcf.2011.09.009. Epub 2011 Oct 20.
7
Recommendations for the classification of diseases as CFTR-related disorders.疾病分类建议作为 CFTR 相关疾病。
J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3.
8
Microbiology of sinusitis.鼻窦炎的微生物学
Proc Am Thorac Soc. 2011 Mar;8(1):90-100. doi: 10.1513/pats.201006-038RN.
9
Upper and lower airway cultures in children with cystic fibrosis: do not neglect the upper airways.囊性纤维化患儿的上、下呼吸道培养：不要忽视上呼吸道。
J Cyst Fibros. 2010 Mar;9(2):130-4. doi: 10.1016/j.jcf.2010.01.001. Epub 2010 Jan 27.
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