Respiratory and sleep disorders in mucopolysaccharidosis

Journal of Inherited Metabolic Disease

Volumn 36, Issue 2, 2013, Pages 201-210

  Berger, Kenneth I ^a,i   Fagondes, Simone C ^b   Giugliani, Roberto ^b   Hardy, Karen A ^c   Lee, Kuo Sheng ^d   McArdle, Ciarán ^e   Scarpa, Maurizio ^f   Tobin, Martin J ^g   Ward, Susan A ^h   Rapoport, David M ⁱ  

^a BELLEVUE HOSPITAL CENTER   (United States)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c CHILDREN S HOSPITAL OAKLAND   (United States)

^d MACKAY MEMORIAL HOSPITAL   (Taiwan)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF PADOVA   (Italy)

^g HINES VA HOSPITAL   (United States)

^h Human Bio Energetics Research Centre   (United Kingdom)

ⁱ NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BRONCHODILATING AGENT; CHOLINERGIC RECEPTOR BLOCKING AGENT; CHONDROITIN SULFATE; CORTICOSTEROID; DERMATAN SULFATE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; KERATAN SULFATE;

ADENOIDECTOMY; AIRWAY OBSTRUCTION; ARTICLE; ASTHMA; EAR NOSE THROAT DISEASE; ENZYME REPLACEMENT; EXERCISE TOLERANCE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; LOWER RESPIRATORY TRACT OBSTRUCTION; LUNG FUNCTION TEST; MAROTEAUX LAMY SYNDROME; MORQUIO SYNDROME; MUCOPOLYSACCHARIDOSIS; MUCOPOLYSACCHARIDOSIS TYPE 7; MULTIDETECTOR COMPUTED TOMOGRAPHY; POSITIVE END EXPIRATORY PRESSURE; REM SLEEP; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; SANFILIPPO SYNDROME; SLEEP DISORDER; SLEEP DISORDERED BREATHING; SPIROMETRY; THORAX RADIOGRAPHY; TONSILLECTOMY; TRACHEOSTOMY; UPPER RESPIRATORY TRACT OBSTRUCTION; VITAL CAPACITY; COMPLICATION; PATHOPHYSIOLOGY; RESPIRATORY SYSTEM; SLEEP DISORDERS;

AIRWAY OBSTRUCTION; HUMANS; MUCOPOLYSACCHARIDOSES; RESPIRATORY SYSTEM; SLEEP DISORDERS;

EID: 84879694961     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9555-1     Document Type: Article

References (67)

1. American Thoracic Society (2002) ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med 166:111-117
2. American Thoracic Society/American College of Chest Physicians (2003) Statement on cardiopulmonary exercise testing. Am J Respir Crit Care Med 167(211-277):2003
3. Aurora P, Bush A, Gustafsson P et al (2005) Multiple-breath washout as a marker of lung disease in preschool children with cystic fibrosis. Am J Respir Crit Care Med 171:249-256
4. 2 homeostasis during periodic breathing in obstructive sleep apnea. J Appl Physiol 88:257-264
5. Berger KI, Ayappa I, Chatr-amontri B, Marfatia A et al (2001) Obesity hypoventilation syndrome as a spectrum of respiratory disturbances during sleep. Chest 120:1231-1238
6. Buhain WJ, Rammohan G, Berger HW (1975) Pulmonary function in Morquio's disease: a study of two siblings. Chest 68:41-45
7. Canani SE, John AB, Schwartz IV et al (2003) Manejo de apnéia do sono em um paciente com mucopolysaccharidose. Hypn J Clin Exp Sleep Res 3:40-41
8. Cassano P, Gelardi M, Cassano M, Fiorella ML, Fiorella R (2003) Adenoid tissue rhinopharyngeal obstruction grading based on fiberendoscopic findings: a novel approach to therapeutic management. Int J Pediatr Otorhinolaryngol 67:1303-1309
9. Clarke LA, Wraith JE, Beck M et al (2009) Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 123:229-240
10. Dempsey JA, Veasey SC, Morgan BJ, O'Donnell CP (2010) Pathophysiology of sleep apnea. Physiol Rev 90:47-112
11. Enright PL, Sherrill DL (1998) Reference equations for the six-minute walk in healthy adults. Am J Respir Crit Care Med 158:1384-1387
12. Friedman M, Tanyeri H, La Rosa M et al (1999) Clinical predictors of obstructive sleep apnea. Laryngoscope 109:1901-1907
13. Ginzburg AS, Önal E, Aronson RM, Schild JA, Mafee MF, Lopata M (1990) Successful use of nasal-CPAP for obstructive sleep apnea in Hunter syndrome with diffuse airway involvement. Chest 97:1496-1498
14. Giugliani R, Harmatz P, Wraith JE (2007) Management guidelines for mucopolysaccharidosis VI. Pediatrics 120:405-418
15. Harmatz P, Whitley CB, Waber L et al (2004) Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 144:574-580
16. Harmatz P, Ketteridge D, Giugliani R et al (2005) Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 115:e681-e689
17. Harmatz P, Giugliani R, Schwartz I et al (2006) Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 148:533-539
18. Harmatz P, Giugliani R, Schwartz IVD et al (2008) Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 94:469-475
19. Harmatz P, Yu ZF, Giugliani R et al (2010) Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis 33:51-60
20. Heinzer RC, Stanchina ML, Malhotra A et al (2005) Lung volume and continuous positive airway pressure requirements in obstructive sleep apnea. Am J Respir Crit Care Med 172:114-117
21. Hellinckx J, De Boeck K, Bande-Knops J, van der Poel M et al (1998) Bronchodilator response in 3-6.5 years old healthy and stable asthmatic children. Eur Respir J 12:438-443
22. Ingelmo PM, Parini R, Grimaldi M et al (2011) Multidetector computed tomography (MDCT) for preoperative airway assessment in children with mucopolysaccharidoses. Minerva Anestesiol 77:774-780
23. Jeong HS, Cho DY, Ahn KM, Jin DK (2006) Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome). Int J Pediatr Otorhinolaryngol 70:1765-1769
24. John A, Fagondes S, Schwartz I et al (2011) Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. Am J Med Genet A 155A:1546-1551
25. Josephson GD, Duckworth L, Hossain J (2011) Proposed definitive grading system tool for the assessment of adenoid hyperplasia. Laryngoscope 121:187-193
26. Kamin W (2008) Diagnosis and management of respiratory involvement in Hunter syndrome. Acta Paediatr Suppl 97:57-60
27. Klug B, Bisgaard H (1996) Measurement of lung function in awake 2-4-year-old asthmatic children during methacholine challenge and acute asthma: a comparison of the impulse oscillation technique, the interrupter technique, and transcutaneous measurement of oxygen versus whole-body plethysmography. Pediatr Pulmonol 21:290-300
28. Krivit W, Pierpont ME, Ayaz K et al (1984) Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. N Engl J Med 311:1606-1611
29. Leboulanger N, Louis B, Vialle R, Heron B, Fauroux B (2011) Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis. Pediatr Pulmonol 46:587-594
30. Leighton SEJ, Papsin B, Vellodi A, Dinwiddie R, Lane R (2001) Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 58:127-138
31. Li AM, Yin J, Au JT et al (2007) Standard reference for the six-minute-walk test in healthy children aged 7 to 16 years. Am J Respir Crit Care Med 176:174-180
32. Lin HY, Chen MR, Lin CC et al (2010) Polysomnographic characteristics in patients with mucopolysaccharidoses. Pediatr Pulmonol 45:1205-1212
33. Mellies U, Ragette R, Schwake C, Boehm H, Voit T, Teschler H (2003) Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders. Neuromuscul Disord 13:123-128
34. Mokhlesi B, Tulaimat A, Faibussowitsch I et al (2007) Obesity hypoventilation syndrome: prevalence and predictors in patients with obstructive sleep apnea. Sleep Breath 11:117-124
35. Muenzer J (2011) Overview of the mucopolysaccharidoses. Rheumatol (Oxf) 50(Suppl 5):v4-v12
36. Muenzer J, Wraith JE, Beck M et al (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8:465-473
37. Muenzer J, Wraith JE, Clarke LA (2009) Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123:19-29
38. Muenzer J, Beck M, Eng CM et al (2011) Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 13:95-101
39. Muhlebach MS, Wooten W, Muenzer J (2011) Respiratory manifestations in mucopolysaccharidoses. Paediatr Respir Rev 12:133-138
40. Murgu SD, Colt HG (2006) Tracheobronchomalacia and excessive dynamic airway collapse. Respirology 11:388-406
41. Myer CM III (1991) Airway obstruction in Hurler's syndrome-radiographic features. Int J Pediatr Otorhinolaryngol 22:91-96
42. Nagano R, Takizawa S, Hayama N et al (2007) Three-dimensional CT and histopathological findings of airway malacia in Hunter syndrome. Tokai J Exp Clin Med 32:59-61
43. Nashed A, Al-Saleh S, Gibbons J et al (2009) Sleep-related breathing in children with mucopolysaccharidosis. J Inherit Metab Dis 32:544-550
44. Okuyama T, Tanaka A, Suzuki Y et al (2010) Japan Elaprase® Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (mucopolysaccharidosis II, MPS II). Mol Genet Metab 99:18-25
45. Oppenheimer BW, Goldring RM, Herberg ME et al (2007) Distal airway function in symptomatic subjects with normal spirometry following World Trade Center dust exposure. Chest 132:1275-1282
46. Parikh SR, Coronel M, Lee JJ, Brown SM (2006) Validation of a new grading system for endoscopic examination of adenoid hypertrophy. Otolaryngol Head Neck Surg 135:684-687
47. Pasker HG, Schepers R, Clement J et al (1996) Total respiratory impedance measured by means of the forced oscillation technique in subjects with and without respiratory complaints. Eur Respir J 9:131-139
48. Pelley CJ, Kwo J, Hess DR (2007) Tracheomalacia in an adult with respiratory failure and Morquio syndrome. Respir Care 52:278-282
49. Prasad VK, Kurtzberg J (2010) Transplant outcomes in mucopolysaccharidoses. Semin Hematol 47: 59-69
50. Ragette R, Mellies U, Schwake C, Voit T, Teschler H (2002) Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax 57:724-728
51. Rapoport DM, Sorkin B, Garay SM, Goldring RM (1982) Reversal of "Pickwickian syndrome" by long-term use of nocturnal nasal-airway pressure. New Engl J Med 307:931-933
52. Rovelli AM (2008) The controversial and changing role of haematopoietic cell transplantation for lysosomal storage disorders: an update. Bone Marrow Transplant 41(Suppl 2):S87-S89
53. Santamaria F, Andreucci MV, Parenti G et al (2007) Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. J Inherit Metab Dis 30:743-749
54. Semenza GL, Pyeritz RE (1988) Respiratory complications of mucopolysaccharide storage disorders. Med (Baltim) 67:209-219
55. Shih SL, Lee YJ, Lin SP, Sheu CY, Blickman JG (2002) Airway changes in children with mucopolysaccharidoses. Acta Radiol 43:40-43
56. Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP (2005) Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 69:589-595
57. Sims HS, Kempiners JJ (2007) Special airway concerns in patients with mucopolysaccharidoses. Respir Med 101:1779-1782
58. Sullivan CE, Issa FG, Berthon-Jones M, Eves L (1981) Reversal of obstructive sleep apnoea by continuous positive airway pressure applied through the nares. Lancet 1:862-865
59. Swiedler SJ, Beck M, Bajbouj M et al (2005) Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet 134A:144-150
60. Turbeville S, Nicely H, Rizzo JD et al (2011) Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI. Mol Genet Metab 102:111-115
61. Walker PP, Rose E, Williams JG (2003) Upper airways abnormalities and tracheal problems in Morquio's disease. Thorax 58:458-459
62. Walker R, Belani KG, Braunlin EA et al (2012) Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. doi: 10.1007/s10545-012-9563-1
63. Wang CC, Hwu WL, Lin KH (2008) Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation. World J Pediatr 4:152-154
64. Wasserman K, Hansen JE, Sue DY, Stringer WW, Sietsema KE, Sun X-G, Whipp BJ (2012) Principles of exercise testing and interpretation, 5th edn. Lippincott Williams & Wilkins, Philadelphia
65. Wold SM, Derkay CS, Darrow DH, Proud V (2010) Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 74:27-31
66. Wraith JE, Clarke LA, Beck M et al (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human a-L-iduronidase (laronidase). J Pediatr 144:581-588
67. Yeung AH, Cowan MJ, Horn B, Rosbe KW (2009) Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg 135:73-79