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 typeⅠand typeⅡ

作　　者：白鑫茹 刘嵘[2] 冯顺乔[2] 普建 谷庆隆 BAI Xinru;LIU Rong;FENG Shunqiao;PU Jian;GU Qinglong(Graduate School of Peking Union Medical College,Beijing,100730,Chian;Children's Hospital Affiliated to the Capital Institute of Pediatrics)

机构地区：[1]北京协和医学院研究生院,北京100730 [2]首都儿科研究所附属儿童医院

出　　处：《临床耳鼻咽喉头颈外科杂志》2024年第3期221-224,229,共5页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：北京市自然科学基金面上项目(No:7232010)。

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。Objective To analyze the characteristics of otorhinolaryngological clinical manifestations in children with Mucopolysaccharide(MPS)typeⅠand typeⅡin order to improve the knowledge of otorhinolaryngologists about this disease.Methods Clinical data related to 55 children with MPS typeⅠand typeⅡwere 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 patients 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 

分 类 号：R767.13[医药卫生—耳鼻咽喉科]