Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.
Adolescent
Age Factors
Airway Obstruction
/ etiology
Child
Child, Preschool
Chronic Disease
Female
Hearing Loss
/ etiology
Humans
Infant
Male
Mucopolysaccharidoses
/ complications
Mucopolysaccharidosis I
/ complications
Mucopolysaccharidosis II
/ complications
Mucopolysaccharidosis III
/ complications
Mucopolysaccharidosis IV
/ complications
Mucopolysaccharidosis VI
/ complications
Otitis Media with Effusion
/ etiology
Otorhinolaryngologic Surgical Procedures
Retrospective Studies
Rhinitis
/ etiology
Sinusitis
/ etiology
Young Adult
Acute otitis media
Chronic/recurrent rhinosinusitis
Hearing loss
Mucopolysaccharidosis
Otitis media with effusion
Upper airway obstruction
Journal
International journal of pediatric otorhinolaryngology
ISSN: 1872-8464
Titre abrégé: Int J Pediatr Otorhinolaryngol
Pays: Ireland
ID NLM: 8003603
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
01
04
2020
revised:
20
05
2020
accepted:
21
05
2020
pubmed:
6
6
2020
medline:
15
12
2020
entrez:
6
6
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32502916
pii: S0165-5876(20)30280-9
doi: 10.1016/j.ijporl.2020.110137
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
110137Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest MM has received the lecture honoraria from Takeda, Genzyme and Biomarin. LM has received the lecture honoraria from Takeda. PJ has received the lecture honoraria from Genzyme and Takeda. The declared collaboration had no impact on the intention to prepare the study or on its content.