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患有获得性气管憩室的兄弟姐妹:可能存在遗传性病因发病机制?

Siblings with Acquired Tracheocele: Possible Hereditary Etiopathogenesis?

机构信息

Department of Otolaryngology Head Neck Surgery, University Hospital of Modena, Via Largo del Pozzo, 41125, Modena, Italy.

Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Modena, Italy.

出版信息

Head Neck Pathol. 2021 Sep;15(3):999-1003. doi: 10.1007/s12105-020-01235-y. Epub 2020 Oct 12.

DOI:10.1007/s12105-020-01235-y
PMID:33044722
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8385091/
Abstract

Tracheocele is a herniation of the tracheal mucosa through a defect in the tracheal wall. Familiar and/or genetical factors have never been taken into consideration in the etiopathogenesis of acquired tracheocele. Acquired tracheocele occurred in a brother and a sister from India. CT scan of the neck showed an air cyst next to the right tracheal wall. They underwent surgical excision through a transverse cervical incision. Histopathology of the lesion revealed a fibrous sac lined by a pseudostratified columnar respiratory epithelium in both patients. They had no recurrence of tracheocele at 12 months follow up. Genetic counseling did not evidence any significative associated abnormalities. No previous cases of familiar acquired tracheocele have been reported in the literature. Given the rarity of the lesion occurring in more than one member of a family, hereditary factors could be supposed as contributing factors in the etiopathogenesis of acquired tracheocele.

摘要

气管憩室是指气管壁缺陷处的气管黏膜疝出。获得性气管憩室的发病机制中从未考虑过熟悉和/或遗传因素。一对来自印度的兄妹患有获得性气管憩室。颈部 CT 扫描显示右侧气管壁旁有一个气囊肿。他们通过颈横切口进行了手术切除。两位患者的病变组织病理学均显示纤维囊,内衬假复层柱状呼吸上皮。12 个月随访时,他们均无气管憩室复发。遗传咨询未发现任何明显的相关异常。文献中尚无家族性获得性气管憩室的报道。鉴于该病变在一个以上家庭成员中发生的罕见性,遗传因素可被认为是获得性气管憩室发病机制中的一个促成因素。

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本文引用的文献

1
Huge Tracheal Diverticulum in a Patient with Mounier-Kuhn Syndrome.一名患有穆尼耶-库恩综合征患者的巨大气管憩室
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Tracheocele--a case report.气管憩室——一例报告。
Laryngoscope. 2011 Aug;121(8):1735-7. doi: 10.1002/lary.21840.
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