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患有PTEN突变的患者自发桃体出血:一个病例报告和系统文献综述

Molly O Meeker¹, Logan F McColl², Prashant S Malhotra³

¹The Ohio State University College of Medicine, Columbus, OH, USA.

International journal of pediatric otorhinolaryngology

|March 22, 2025

概括

这项研究报告了患有PTEN综合征的儿童发生自发桃体出血 (STH) 的第一个病例,PTEN综合征是一种罕见的出血并发症. 需要进一步的研究来探索PTEN综合征与STH风险的联系.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
耳鼻喉科耳鼻喉科耳鼻喉科

背景情况:

PTEN hamartoma瘤综合征 (PTEN综合征) 是一种与PTEN基因失调相关的自体主导性疾病.
PTEN综合征增加了对各种瘤,脂瘤,血管异常和恶性瘤的易感性.
之前的研究指出,PTEN综合征和早期桃体扩大之间存在关联.

研究的目的:

在患有PTEN综合征的儿科患者中呈现一种突发性桃体出血 (STH) 的独特案例.
系统地审查STH病例的文献,并确定与PTEN综合征的任何关联.
调查PTEN综合征,桃体异常和STH风险之间的潜在联系.

主要方法:

一个病例报告,一个9岁的女性患有PTEN综合征,经历STH.
诊断工作包括体检,快速链球菌检测和部计算机断层扫描血管学 (CTA).
进行了系统的文献审查,以确定所有报告的STH病例.

主要成果:

患者出现了喉疼痛和口腔出血的症状,诊断为STH.
CTA显示左桃体的一个小血管的动脉出血;没有发现主要的血管形.
系统性审查确定了41例STH病例,没有一个与PTEN综合征有关.

结论:

STH是一种罕见的疾病,通常与桃体炎有关;这是PTEN综合征患者中首次报告的病例.
虽然该患者患有链球菌喉炎,但动脉出血表明PTEN综合征的潜在贡献.
需要进一步的研究来确定与PTEN综合征相关的血管异常和桃体扩大是否会增加STH风险.

关键词:

在这里,我们可以使用PTEN.在 PTEN 综合征.儿科耳鼻喉科儿科耳鼻喉科自发的桃体出血桃体出血发生时

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