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耳鼻喉科医生诊断出亨特综合征。

Hunter Syndrome Diagnosed by Otorhinolaryngologist.

作者信息

Hashimoto Ayako, Kumagai Tadayuki, Mineta Hiroyuki

机构信息

Department of Otorhinolaryngology, Shizuoka Children's Hospital, Shizuoka, Japan.

Department of Pediatrics, Fujieda City General Hospital, Fujieda, Japan.

出版信息

Case Rep Otolaryngol. 2018 May 13;2018:4252696. doi: 10.1155/2018/4252696. eCollection 2018.

Abstract

Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease. The patient was a 4-year-old boy. He underwent adenotonsillectomy. Intubation was difficult, and he had some symptoms which are reasonable as a mucopolysaccharidosis. The otorhinolaryngologist should play an integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS (mucopolysaccharidoses) disorders.

摘要

亨特综合征是一种溶酶体疾病,其特征是溶酶体酶艾杜糖醛酸-2-硫酸酯酶(I2S)缺乏。据估计,在活产男婴中的发病率约为1/162000。我们报告一例由耳鼻喉科医生诊断出的亨特综合征病例。据我们所知,尽管该疾病在幼年时就会出现耳鼻喉科症状,但这是首例由耳鼻喉科医生诊断的病例。患者为一名4岁男孩。他接受了腺样体扁桃体切除术。插管困难,并且他有一些符合黏多糖贮积症的症状。耳鼻喉科医生在多学科方法诊断和管理许多患有黏多糖贮积症(MPS)的儿童中应发挥不可或缺的作用。

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