黏多糖贮积症Ⅰ型和Ⅱ型患儿耳鼻喉科表现的特点分析
Characterization of otorhinolaryngologic manifestations in children with mucopolysaccharide storage disease type Ⅰ and type Ⅱ
白鑫茹 1刘嵘 2冯顺乔 2普建 2谷庆隆1
作者信息
- 1. 北京协和医学院研究生院(北京,100730);首都儿科研究所附属儿童医院
- 2. 首都儿科研究所附属儿童医院
- 折叠
摘要
目的:分析黏多糖贮积症(mucopolysaccharidosis,MPS)Ⅰ型和Ⅱ型患儿临床表现的特点,以提高耳鼻喉科医生对该病的认识.方法:回顾性分析55例MPSⅠ型和Ⅱ型患儿的相关临床资料,探讨MPS在耳鼻喉科的临床表现.结果:40例(72.72％)的MPS患者在病程中均至少出现了一种耳鼻喉科症状,其中95％的患者在确诊MPS前出现耳鼻喉科症状;上气道阻塞为最常见的耳鼻喉科症状(34例,85.00％),反复上呼吸道感染次之(23例,57.50％),最后为听力下降(11例,27.50％);26例患者至少接受过1次外科手术,其中15例(57.69％)接受过耳鼻喉科手术,这些患者均在确诊前接受耳鼻喉科手术.最常见的耳鼻喉科手术是腺样体切除术.结论:MPS患者早期临床表现不典型,但耳鼻喉科症状出现早期且普遍,提高耳鼻喉科医生对该病的认识对MPS预后有着积极的意义.
Abstract
Objective:To analyze the characteristics of otorhinolaryngological clinical manifestations in children with Mucopolysaccharide(MPS)type Ⅰ and type Ⅱ in order to improve the knowledge of otorhinolaryngologists a-bout this disease.Methods:Clinical data related to 55 children with MPS type Ⅰ and type Ⅱ were retrospectively analyzed to investigate the clinical manifestations of MPS in ENT.Results:All 40 patients(72.72％)with MPS had at least one ENT symptom during the course of the disease,with 95％of them having an ENT symptom prior to the diagnosis of MPS;upper airway obstruction was the most common ENT symptom(34,85.00％),followed by recurrent upper respiratory tract infections(23,57.50％),and lastly,hearing loss(11,27.50％);all 26 pa-tients had undergone at least one surgical procedure,of which 15(57.69％)had undergone ENT surgery,and all of these patients underwent ENT surgery before diagnosis.The most common ENT surgery was adenoidectomy.Conclusion:Early clinical manifestations of MPS patients are atypical,but the early and prevalent appearance of otolaryngologic symptoms and increased awareness of the disease among otolaryngologists has a positive impact on the prognosis of MPS.
关键词
黏多糖贮积症/临床表现/上气道阻塞/反复呼吸道感染/听力下降Key words
mucopolysaccharidos/clinical manifestation/upper airway obstruction/recurrent respiratory in-fections/hearing loss引用本文复制引用
基金项目
北京市自然科学基金面上项目(7232010)
出版年
2024
NETL
NSTL
万方数据