干扰素基因相关的血管病变与发作在婴儿期(SAVI综合征)的刺激物。

IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY
M Saro-Buendía, M Mansilla-Polo, A García-Piñero, M Armengot-Carceller
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引用次数: 0

摘要

前言:通过一份病例报告,记录婴儿期起病的sting相关血管病变(SAVI)综合征的耳鼻喉科表现,说明其对实现诊断的价值。病例总结:一名四十多岁的男性,自童年早期开始出现与运动相关的呼吸困难和鼻尖、脸颊、耳朵和脚上的寒冷加重的疼痛病变。耳鼻喉部表现为软骨坏死(耳廓和鼻尖)和1厘米前鼻中隔穿孔。一个熟悉的遗传模式是明显的,遗传研究证实了SAVI综合征的诊断。采用JAK抑制剂治疗,产生良好的反应。讨论:SAVI综合征是最近发现的一种疾病,具有可识别的耳鼻喉科表现,可能是临床怀疑和遗传诊断的关键。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Stimulator of interferon genes-associated vasculopathy with onset in infancy (SAVI syndrome).

Introduction: To document through a case report the ENT manifestations of the STING-associated vasculopathy with onset in infancy (SAVI) syndrome, remarking their value to achieve the diagnosis.

Case summary: A man in his forties presented with exercise-related dyspnoea and cold-exacerbated painful lesions over the nasal tip, cheeks, ears, and feet since his early childhood. The ENT manifestations included cartilaginous necrosis (both auricles and nasal tip) and a 1-cm anterior septal perforation. A familiar inheritance pattern was evident and genetic studies confirmed the diagnosis of a SAVI syndrome. Therapy with JAK inhibitors was implemented, resulting in a favorable response.

Discussion: SAVI syndrome is a recently described disease with recognizable otolaryngologic manifestations that may be key to clinical suspicion and genetic diagnosis.

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来源期刊
CiteScore
3.70
自引率
28.00%
发文量
97
审稿时长
12 days
期刊介绍: European Annals of Oto-rhino-laryngology, Head and Neck diseases heir of one of the oldest otorhinolaryngology journals in Europe is the official organ of the French Society of Otorhinolaryngology (SFORL) and the the International Francophone Society of Otorhinolaryngology (SIFORL). Today six annual issues provide original peer reviewed clinical and research articles, epidemiological studies, new methodological clinical approaches and review articles giving most up-to-date insights in all areas of otology, laryngology rhinology, head and neck surgery. The European Annals also publish the SFORL guidelines and recommendations.The journal is a unique two-armed publication: the European Annals (ANORL) is an English language well referenced online journal (e-only) whereas the Annales Françaises d’ORL (AFORL), mail-order paper and online edition in French language are aimed at the French-speaking community. French language teams must submit their articles in French to the AFORL site. Federating journal in its field, the European Annals has an Editorial board of experts with international reputation that allow to make an important contribution to communication on new research data and clinical practice by publishing high-quality articles.
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