Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway

Gönüldaş, Burhanettin; Yılmaz, Taner; Sivri, Hatice Serap; Güçer, Kadri Şafak; Kılınç, Kamer; Genç, Gülsüm Aydan; Kılıç, Mustafa; Coşkun, Turgay

doi:10.1016/j.ijporl.2014.03.021

Cited by 60 publications

(68 citation statements)

References 26 publications

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“…It was reported as 56% by Gönüldafl et al [3] All ENT doctors should be noticed to be aware of these problems.…”

Section: Otolaryngological Manifestationsmentioning

confidence: 95%

“…Otolaryngological involvement in MPS is due to accumulation of GAG in upper airway leading to obstruction and OSA, thus decreasing the quality of life of MPS patients. [3][4][5][6] Mouth opening status had restricted due to temporomandibular joint involvement in MPSs. MPS type III had significantly better mouth opening than other MPS types.…”

Section: öZetmentioning

confidence: 99%

“…While 98.7% of MPS patients had hearing loss, 92.1% of the cases had conductive hearing loss. [3] In this review paper, we reported otolaryngological problems (upper airway obstruction, obstructive sleep apnea, restriction of mouth opening, middle ear effusion, hearing and breathing problems, etc.) in patients with MPSs.…”

Section: öZetmentioning

confidence: 99%

“…Tracheotomy may be difficult due to short neck Increased GAG levels in middle ear fluid may cause recurrent otitis media with effusion (OME) [3] Increased recurrence rates after adenoidectomy. It was reported as 56% by Gönüldafl et al [3] All ENT doctors should be noticed to be aware of these problems.…”

Section: Otolaryngological Manifestationsmentioning

confidence: 99%

“…Gönüldafl et al [3] reported that most MPS patients have airway obstruction and OSA due to adenotonsillar hyper-…”

mentioning

confidence: 99%

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Otolaryngological findings in mucopolysaccharidosis

Cingi¹

2014

J Med Updates

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“…It was reported as 56% by Gönüldafl et al [3] All ENT doctors should be noticed to be aware of these problems.…”

Section: Otolaryngological Manifestationsmentioning

confidence: 95%

Section: öZetmentioning

confidence: 99%

Section: öZetmentioning

confidence: 99%

Section: Otolaryngological Manifestationsmentioning

confidence: 99%

“…Gönüldafl et al [3] reported that most MPS patients have airway obstruction and OSA due to adenotonsillar hyper-…”

mentioning

confidence: 99%

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Otolaryngological findings in mucopolysaccharidosis

Cingi¹

2014

J Med Updates

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A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome

Facchina

Amaddeo

Baujat

et al. 2018

American J of Med Genetics Pt A

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Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10.5 AE 4.2 years) with MPS IVA seen over a period of 3 years was performed. The prevalence of obstructive sleep apnea (OSA) was 69% with only five patients, all younger than 10 years old, having a normal PG. Four patients had mild OSA (apnea-hypopnea index [AHI] ≥1.5 and <5 events/hr), three patients had moderate OSA (AHI ≥5 and <10 events/hr), and three patients had severe OSA (AHI ≥ 10 events/hr). Among the 10 patients with OSA, 3 had prior adenoidectomy AE tonsillectomy and 6 were on enzyme replacement therapy. Only one patient had a central apnea index >5 events/hr despite prior cervico-occipital decompression. Six patients, all older than 11 years old, were started on CPAP or NIV because of severe OSA (n = 4), nocturnal hypoventilation (n = 1), or impossibility to be weaned from NIV after an acute respiratory failure (n = 1). Prevalence of OSA is high in patients with MPS IVA, underlying the importance of a systematic screening for sleep-disordered breathing. CPAP and NIV are efficient and well accepted for treating sleep-disordered breathing.

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Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI

Tural

Emiralioğlu

Özsezen

et al. 2021

American J of Med Genetics Pt A

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The aims of the study were to evaluate the prevalence of sleep-disordered breathing (SDB) by using polysomnography (PSG) in children with MPS IVA and MPS VI who underwent enzyme replacement therapy (ERT) and to analyze the effect on SDB of having upper airway surgery, pulmonary functions, and exercise capacity. A retrospective cross-sectional study was conducted on patients with MPS IVA (n:17) and MPS VI (n:11) aged under 19 years who underwent polysomnography. Descriptive and nonparametric analyses were performed for demographic, PSG, pulmonary function and exercise capacity variables. The frequency of sleep apnea in the study sample was 85.7% (24/28). Four patients (14.3%) had no sleep apnea, 15 (53.6%) had mild, and nine (32.1%) had moderate-to-severe sleep apnea. Two patients (7.1%) had central sleep apnea and 22 had obstructive sleep apnea (OSA) (78.6%). Forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were negatively correlated to apnea-hypopnea index (AHI) (r = À0.594, p = .009; r = À0.636, p = .005, respectively). Despite ERT and previous upper airway surgery, the prevalence of OSA was high in patients with MPS IVA-MPS IV, emphasizing the importance of PSG screening for sleep disorders. Pulmonary function tests may be useful for predicting sleep apnea in patients with MPS IVA and MPS VI.

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Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway

Cited by 60 publications

References 26 publications

Otolaryngological findings in mucopolysaccharidosis

Otolaryngological findings in mucopolysaccharidosis

A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome

Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI

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