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Clinical assessment of upper airway and its complications in Hunter syndrome
Author(s) -
Iijima Masatoshi,
Hirano Daishi,
Yokoi Kentaro,
Kobayashi Hiroshi,
Fujiwara Masako,
Ida Hiroyuki,
Oishi Kimihiko
Publication year - 2021
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.14467
Subject(s) - medicine , airway , hunter syndrome , neurocognitive , airway obstruction , apnea , disease , severity of illness , sleep apnea , apnea–hypopnea index , retrospective cohort study , polysomnography , surgery , cognition , psychiatry
Background Hunter syndrome (HS) is an X‐linked, recessive, lysosomal storage disease caused by a deficiency of the lysosomal enzyme, iduronate sulfatase (IDS). It is characterized by multisystem accumulations of glycosaminoglycans and upper airway obstruction is one of the major causes of death. While the current disease severity classifications for HS are mainly based on the degree of neurocognitive impairment, its association with the level of upper airway obstruction has not been assessed. Methods A retrospective chart review of HS patients who were followed at the Jikei University School of Medicine was performed. Association between the degree of airway obstruction and the currently used disease severity scores was evaluated. Results We identified eight HS patients and they were enrolled in the study. The Modified Mallampati classification (MMC) score, used to predict difficulties for oropharyngeal procedures, was significantly correlated with the HS severity. It was also correlated with the Apnea‐Hypopnea Index (AHI). No significant correlation between IDS enzymatic activity and the severity of HS disease was identified. Conclusions Variable clinical expressivities exist in HS, but the risk of respiratory complications is likely to be associated with disease severity, assessed by the previously recognized neurocognitive function‐based severity scoring systems. MMC can be a simple supplementary tool to evaluate disease severity as well as predict difficulties for oropharyngeal procedures and respiratory function complications in HS, such as sleep apnea.