Upper airways abnormalities and tracheal problems in Morquio's disease

Walker, PP

doi:10.1136/thorax.58.5.458

Cited by 46 publications

(56 citation statements)

References 8 publications

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“…GAG accumulation in the upper airways and tonsils predisposes the patient to the development of obstructive sleep apnoea and upper airway obstruction (Walker et al 2003;Montaño et al 2007). Respiratory function is further compromised by chest wall deformities and displacement of the diaphragm due to short stature coupled with hepatosplenomegaly (Hendriksz et al 2013).…”

Section: Introductionmentioning

confidence: 99%

Mortality in Patients with Morquio Syndrome A

2014

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Background: Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, lifelimiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age.Methods: To better understand the natural progression of the disease, life expectancy and common causes of death, death certificates were evaluated for 27 patients (15 male, 12 female) with Morquio syndrome A in the UK, covering the years 1975-2010.Results: Mean age at death (AEstandard deviation) was 25.30 AE 17.43 years, with female patients living longer than male patients (26.55 AE 12.28 years versus 22.95 AE 17.63 years, respectively). Respiratory failure was the primary cause of death in nearly two-thirds of patients (63%). Other causes of death were cardiac failure (11%), post-traumatic organ failure (11%), complications of surgery (11%) and myocardial infarction (4%). Life expectancy increased gradually over time (R 2 ¼ 0.0963), and mean age at death due to respiratory failure improved from 17.42 AE 9.54 years in the 1980s to 30.74 AE 10.84 years in the 2000s. Conclusions:The current data suggest that survival of patients with Morquio syndrome A in the UK has improved in recent decades. It is possible that improvements in multidisciplinary care and referral of patients to specialist centres underlie this trend. It is hoped that novel diseasespecific treatments such as enzyme replacement therapy and haematopoietic stem cell therapy will help to extend the lifespan of patients with Morquio syndrome further still.

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Section: Introductionmentioning

confidence: 99%

Mortality in Patients with Morquio Syndrome A

2014

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“…The major clinical symptom is skeletal system involvement (1). Short stature, spinal deformities, odontoid hypoplasia, corneal opacity, cardiac anomalies, hepatosplenomegaly, hearing problems, and dental anomalies are observed, but mental retardation is not seen (3,4). Death usually occurs due to neurological deficits caused by respiratory failure and vertebral anomalies (3).…”

Section: Discussionmentioning

confidence: 99%

“…Type A is the severe form the disease, and type B is the mild form (2). In addition to the disease, short stature, spinal deformities, odontoid hypoplasia, corneal opacity, cardiac anomalies, hepatosplenomegaly, hearing problems, and dental anomalies are observed (3,4). The respiratory problems observed in Morquio syndrome contain restrictive-type respiratory failures caused by thoracic deformities and respiratory muscle weakness.…”

Section: Introductionmentioning

confidence: 99%

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Type 2 Respiratory Insufficiency, Pulmonary Hypertension, and Obstructive Sleep Apnea Syndrome that Developed in Morquio Syndrome

Gülhan¹,

Ekici²,

Ekici³

et al. 2015

Eurasian J Pulmonol

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Mucopolysaccharidosis type IVA (Morquio syndrome) is a multisystemic autosomal recessive transitive disease induced by an N-acetylgalactosamine 6 sulfatase (GALNS) gene defect, progressing with lysosomal stock failure. The accumulation of chondroitin 6 sulfate and keratin sulfate is observed in the tissues due to GALNS deficiency. We presented a case in which Morquio syndrome was successfully treated with noninvasive mechanical ventilation in accordance with the literature. The case had obstructive sleep apnea syndrome (OSAS) induced by an obstruction that emerged as a result of type 2 respiratory insufficiency resulting from throcal deformity, inspiratory muscle weakness, pulmonary hypertension, and the accumulation of diffuse mucopolysaccharide in the upper respiratory tract.

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“…The GAG deposition in the upper airways, which become increasingly narrowed, is probably a major determinant of symptoms in Hurler (MPS type I), Hunter (MPS type II), Morquio (MPS type IV) and Maroteaux-Lamy (MPS type VI) syndromes [95,[97][98][99]. In the vast majority of patients, noisy breathing, oral snoring and even severe OSAS dominate the clinical picture, and recurrent airway infections are reported at all ages [97,[99][100][101][102][103][104]. Severe respiratory problems that significantly contribute to premature mortality were reported in MPS type I, II, IV and VI [104].…”

Section: Mucopolysaccharidosesmentioning

confidence: 99%

Respiratory manifestations in patients with inherited metabolic diseases

et al. 2013

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Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving because new therapeutic strategies are available. Because most inherited metabolic diseases are systemic disorders, virtually all organs may be involved. Respiratory disease complicates the management of several inherited metabolic diseases, either at presentation or as late-onset features. This review will describe the most exemplary respiratory manifestations of inherited metabolic diseases in childhood and adulthood. Since airways disease worsens the morbidity of many inherited metabolic disorders, leading to increased hospitalisations, mortality and overall healthcare costs, respiratory manifestations of inherited metabolic diseases need to be carefully recognised and treated. All patients with inherited metabolic disease and suspected airway disease should undergo a detailed diagnostic work-up. Current treatments for several inherited metabolic diseases (including enzyme replacement therapy, substrate reduction, bone marrow transplantation, or even more innovative strategies such as pharmacological chaperone or gene therapies) may provide significant benefits for associated respiratory disease. The integration of several specialists dedicated to airway disease management in a multidisciplinary team is essential to provide the most appropriate care to children and adults with inherited metabolic disease. @ERSpublications Proper management of respiratory disease is mandatory for reducing morbidity and mortality of inherited metabolic disease

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Upper airways abnormalities and tracheal problems in Morquio's disease

Cited by 46 publications

References 8 publications

Mortality in Patients with Morquio Syndrome A

Mortality in Patients with Morquio Syndrome A

Type 2 Respiratory Insufficiency, Pulmonary Hypertension, and Obstructive Sleep Apnea Syndrome that Developed in Morquio Syndrome

Respiratory manifestations in patients with inherited metabolic diseases

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