Characterization of otorhinolaryngologic manifestations in children with mucopolysaccharide storage disease typeⅠand type Ⅱ
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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 about 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 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.
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