Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA
Mucopolysaccharidosis (MPS) is a hereditary disorder arising from lysosomal enzymes deficiency, with glycosaminoglycans (GAGs) storage in connective tissues and bones, which may compromise the airway. This retrospective study evaluated patients with MPS type IVA with airway obstruction detected via...
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MDPI AG
2023-03-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/13/3/494 |
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| author | Yi-Hao Lee Chin-Hui Su Che-Yi Lin Hsiang-Yu Lin Shuan-Pei Lin Chih-Kuang Chuang Kuo-Sheng Lee |
| author_facet | Yi-Hao Lee Chin-Hui Su Che-Yi Lin Hsiang-Yu Lin Shuan-Pei Lin Chih-Kuang Chuang Kuo-Sheng Lee |
| author_sort | Yi-Hao Lee |
| collection | DOAJ |
| description | Mucopolysaccharidosis (MPS) is a hereditary disorder arising from lysosomal enzymes deficiency, with glycosaminoglycans (GAGs) storage in connective tissues and bones, which may compromise the airway. This retrospective study evaluated patients with MPS type IVA with airway obstruction detected via endoscopy and imaging modalities and the effects of surgical interventions based on symptoms. The data of 15 MPS type IVA patients (10 males, 5 females, mean age 17.8 years) were reviewed in detail. Fiberoptic bronchoscopy (FB) was used to distinguish adenotonsillar hypertrophy, prolapsed soft palate, secondary laryngomalacia, vocal cord granulation, cricoid thickness, tracheal stenosis, shape of tracheal lumen, nodular deposition, tracheal kinking, tracheomalacia with rigid tracheal wall, and bronchial collapse. Computed tomography (CT) helped to measure the deformed sternal angle, the cross-sectional area of the trachea, and its narrowest/widest ratio (NW ratio), while angiography with 3D reconstruction delineated tracheal torsion, kinking, or framework damage and external vascular compression of the trachea. The NW ratio correlated negatively with age (<i>p</i> < 0.01), showing that airway obstruction progressed gradually. Various types of airway surgery were performed to correct the respiratory dysfunction. MPS type IVA challenges the management of multifactorial airway obstruction. Preoperative airway evaluation with both FB and CT is strongly suggested to assess both intraluminal and extraluminal factors causing airway obstruction. |
| first_indexed | 2024-03-11T06:19:37Z |
| format | Article |
| id | doaj.art-e174f17227914e6aa2953e4b35aecb70 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-11T06:19:37Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-e174f17227914e6aa2953e4b35aecb702023-11-17T12:03:07ZengMDPI AGJournal of Personalized Medicine2075-44262023-03-0113349410.3390/jpm13030494Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVAYi-Hao Lee0Chin-Hui Su1Che-Yi Lin2Hsiang-Yu Lin3Shuan-Pei Lin4Chih-Kuang Chuang5Kuo-Sheng Lee6Department of Otorhinolaryngology-Head and Neck Surgery, Hsinchu Branch of MacKay Memorial Hospital, Hsinchu 30071, TaiwanDepartment of Otorhinolaryngology-Head and Neck Surgery, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Otorhinolaryngology-Head and Neck Surgery, National Taiwan University Hospital, Taipei 10002, TaiwanDepartment of Medicine, MacKay Medical College, New Taipei City 25245, TaiwanDepartment of Medicine, MacKay Medical College, New Taipei City 25245, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Otorhinolaryngology-Head and Neck Surgery, MacKay Memorial Hospital, Taipei 10449, TaiwanMucopolysaccharidosis (MPS) is a hereditary disorder arising from lysosomal enzymes deficiency, with glycosaminoglycans (GAGs) storage in connective tissues and bones, which may compromise the airway. This retrospective study evaluated patients with MPS type IVA with airway obstruction detected via endoscopy and imaging modalities and the effects of surgical interventions based on symptoms. The data of 15 MPS type IVA patients (10 males, 5 females, mean age 17.8 years) were reviewed in detail. Fiberoptic bronchoscopy (FB) was used to distinguish adenotonsillar hypertrophy, prolapsed soft palate, secondary laryngomalacia, vocal cord granulation, cricoid thickness, tracheal stenosis, shape of tracheal lumen, nodular deposition, tracheal kinking, tracheomalacia with rigid tracheal wall, and bronchial collapse. Computed tomography (CT) helped to measure the deformed sternal angle, the cross-sectional area of the trachea, and its narrowest/widest ratio (NW ratio), while angiography with 3D reconstruction delineated tracheal torsion, kinking, or framework damage and external vascular compression of the trachea. The NW ratio correlated negatively with age (<i>p</i> < 0.01), showing that airway obstruction progressed gradually. Various types of airway surgery were performed to correct the respiratory dysfunction. MPS type IVA challenges the management of multifactorial airway obstruction. Preoperative airway evaluation with both FB and CT is strongly suggested to assess both intraluminal and extraluminal factors causing airway obstruction.https://www.mdpi.com/2075-4426/13/3/494airway obstructiontracheal stenosisglycosaminoglycans (GAGs)mucopolysaccharidosis (MPS)Morquio syndromefiberoptic bronchoscopy |
| spellingShingle | Yi-Hao Lee Chin-Hui Su Che-Yi Lin Hsiang-Yu Lin Shuan-Pei Lin Chih-Kuang Chuang Kuo-Sheng Lee Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA Journal of Personalized Medicine airway obstruction tracheal stenosis glycosaminoglycans (GAGs) mucopolysaccharidosis (MPS) Morquio syndrome fiberoptic bronchoscopy |
| title | Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA |
| title_full | Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA |
| title_fullStr | Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA |
| title_full_unstemmed | Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA |
| title_short | Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA |
| title_sort | endoscopic and image analysis of the airway in patients with mucopolysaccharidosis type iva |
| topic | airway obstruction tracheal stenosis glycosaminoglycans (GAGs) mucopolysaccharidosis (MPS) Morquio syndrome fiberoptic bronchoscopy |
| url | https://www.mdpi.com/2075-4426/13/3/494 |
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