原发性纤毛运动障碍患者中与伴鼻息肉的慢性鼻-鼻窦炎相关的GAS8基因新突变：病例报告
A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.
作者信息
Artesani Maria Cristina, Santarsiero Sara, Sitzia Emanuela, Lepri Francesca Romana, Magliozzi Monia, Majo Fabio, Ullmann Nicola, Stracuzzi Alessandra, Novelli Antonio, Cristalli Giovanni, Fiocchi Alessandro
机构信息
Allergy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
出版信息
Front Pediatr. 2024 May 30;12:1345265. doi: 10.3389/fped.2024.1345265. eCollection 2024.
BACKGROUND
Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. The forms of PCD associated with the variants of the GAS8 gene identified so far seem to be linked to recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus.
CASE PRESENTATION
We report a case of an 11-year-old girl with recurrent otitis media, productive cough, and chronic rhinosinusitis with nasal polyposis with homozygosity for a novel nonsense mutation in the GAS8.
CONCLUSION
Children with CRSwNP should be treated in a multidisciplinary manner (ENT, pulmonologist, allergist, pathologist, pediatrician, and geneticist) because nasal polyposis often hides etiologies that must be recognized.
背景
原发性纤毛运动障碍（PCD）被认为是慢性鼻-鼻窦炎伴鼻息肉（CRSwNP）的罕见病因，在6%的PCD儿童中有所报道。迄今为止，已鉴定出的与GAS8基因变异相关的PCD形式似乎与反复呼吸道感染（鼻窦炎、中耳炎和支气管扩张）有关，且无内脏反位。
病例报告
我们报告了一例11岁女孩，患有复发性中耳炎、咳痰性咳嗽以及慢性鼻-鼻窦炎伴鼻息肉，其GAS8基因存在一个新的无义突变的纯合性。
结论
CRSwNP患儿应采用多学科方式进行治疗（耳鼻喉科医生、肺科医生、过敏症专科医生、病理学家、儿科医生和遗传学家），因为鼻息肉常常掩盖了必须识别的病因。
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