Murgasova Lenka, Jurovcik Michal, Jesina Pavle, Malinova Vera, Bloomfield Marketa, Zeman Jiri, Magner Martin
Department of Pediatrics and Adolescent Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic; Department of ENT, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.
Department of ENT, Motol University Hospital and Second Faculty of Medicine, Charles University, Prague, Czech Republic.
Int J Pediatr Otorhinolaryngol. 2020 Aug;135:110137. doi: 10.1016/j.ijporl.2020.110137. Epub 2020 May 27.
The mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders with multisystemic and highly variable clinical manifestation. ENT symptoms are common and early signs of MPS. The most common ENT diagnoses are chronic/recurrent rhinosinusitis, acute otitis media, otitis media with effusion, hearing loss and airway obstruction.
A single-centre retrospective chart review of 61 patients (36 M/25F) with different MPS subtypes (MPS I (n = 15), MPS II (n = 10), MPS III (n = 17), MPS IV (n = 15) and MPS VI (n = 4)) was conducted. The age of ENT presentation and frequency of ENT symptoms, surgeries and their distribution among MPS subtypes was studied. The relationship between ENT presentation, first ENT surgery and the age of diagnosis was also evaluated.
Median age at the first ENT manifestation was 2.8 years, median age at MPS diagnosis 4.1 years. The great majority of patients (90%) manifested at least one ENT diagnosis; often before the diagnosis of MPS (75%). Chronic/recurrent rhinosinusitis was the most prevalent ENT diagnosis (77%), followed by upper airway obstruction (65%) and hearing loss (53%). Chronic/recurrent rhinosinusitis was the first ENT symptom to appear (median age 2.2 years), followed by otitis media with effusion (3.7 years) and hearing loss (4.5 years). At least one ENT surgery was performed in 57% of patients; in 69% before MPS diagnosis was established. Median age of the first ENT surgery was 4.1 years. ENT symptoms and surgical procedures were earliest present in MPS II.
Our study documents high and early occurrence of various otolaryngologic symptoms in MPS and thus highlights the role of ENT specialist in prompt diagnosis of these rare diseases and their long-term management.
黏多糖贮积症（MPS）是遗传性溶酶体贮积病，临床表现具有多系统性且高度可变。耳鼻喉科（ENT）症状常见，是MPS的早期体征。最常见的耳鼻喉科诊断为慢性/复发性鼻窦炎、急性中耳炎、分泌性中耳炎、听力损失和气道阻塞。
对61例不同MPS亚型（MPS I（n = 15）、MPS II（n = 10）、MPS III（n = 17）、MPS IV（n = 15）和MPS VI（n = 4））的患者（36例男性/25例女性）进行单中心回顾性病历审查。研究耳鼻喉科症状出现的年龄、耳鼻喉科症状的频率、手术及其在MPS亚型中的分布。还评估了耳鼻喉科症状、首次耳鼻喉科手术与诊断年龄之间的关系。
首次出现耳鼻喉科症状的中位年龄为2.8岁，MPS诊断的中位年龄为4.1岁。绝大多数患者（90%）至少有一项耳鼻喉科诊断；通常在MPS诊断之前（75%）。慢性/复发性鼻窦炎是最常见的耳鼻喉科诊断（77%），其次是上气道阻塞（65%）和听力损失（53%）。慢性/复发性鼻窦炎是最早出现的耳鼻喉科症状（中位年龄2.2岁），其次是分泌性中耳炎（3.7岁）和听力损失（4.5岁）。57%的患者至少进行了一次耳鼻喉科手术；69%在MPS诊断确立之前进行。首次耳鼻喉科手术的中位年龄为4.1岁。耳鼻喉科症状和手术程序在MPS II中出现最早。
我们的研究记录了MPS中各种耳鼻喉科症状的高发性和早期出现情况，从而突出了耳鼻喉科专家在这些罕见疾病的早期诊断及其长期管理中的作用。
