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同卵双胞胎姐妹的特发性声门下气管狭窄

Idiopathic Subglottic Tracheal Stenosis in Identical Twin Sisters.

作者信息

Abbasi Dezfouli Azizollah, Shadmehr Mohammad Behgam, Sheikhy Kambiz

机构信息

Lung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Tracheal Diseases Research Center (TDRC), National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Iran J Otorhinolaryngol. 2019 Jul;31(105):243-245.

Abstract

INTRODUCTION

Idiopathic subglottic tracheal stenosis is a rare inflammatory disease of the trachea; most commonly affects females within the age range of 20-50 years. No etiologic factor has yet been identified for this rare tracheal disease and therefore it should be diagnosed after the exclusion of other inflammatory, traumatic, and autoimmune diseases of the trachea. The familial or genetic predisposition to this disease is still unknown although one published report in the literature showed some familial predisposition.

CASE REPORT

A 41-year old woman presented with progressive dyspnea and stridor. The bronchoscopic evaluation revealed subglottic tracheal stenosis; however, there was no significant etiology of this disease after complete evaluations. Therefore, the idiopathic subglottic stenosis was the final diagnosis. After two years, her identical twin sister presented with the same signs and symptoms. There was also no etiology for her tracheal stenosis. The first patient was managed surgically through cricotracheal resection. However, the second sister didn't need surgical resection due to the mild to moderate tracheal stenosis.

CONCLUSION

The obtained results of our cases along with the previously reported family cases can potentiate the hypothesis that there is some genetic predisposition to the development of this disease.

摘要

引言

特发性声门下气管狭窄是一种罕见的气管炎性疾病;最常影响20至50岁的女性。这种罕见的气管疾病尚未发现病因,因此应在排除其他气管炎性、创伤性和自身免疫性疾病后进行诊断。尽管文献中有一篇已发表的报告显示存在一定的家族易感性,但该疾病的家族或遗传易感性仍然未知。

病例报告

一名41岁女性出现进行性呼吸困难和喘鸣。支气管镜检查显示声门下气管狭窄;然而,经过全面评估后,该疾病没有明显病因。因此,最终诊断为特发性声门下狭窄。两年后,她的同卵双胞胎姐妹出现了相同的症状和体征。她的气管狭窄也没有病因。第一名患者通过环状气管切除术进行手术治疗。然而,由于气管狭窄为轻至中度,第二名姐妹不需要手术切除。

结论

我们病例的结果以及先前报道的家族病例可以加强这样一种假设,即这种疾病的发生存在某种遗传易感性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2495/6666938/34204e8589a9/ijo-31-243-g001.jpg

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