Respiratory Manifestations in Mucopolysaccharidoses

Paediatric Respiratory Reviews

Volumn 12, Issue 2, 2011, Pages 133-138

  Muhlebach, Marianne S ^a   Wooten, William ^a   Muenzer, Joseph ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Airway obstruction; Anaesthesia; Children; Mucoploysacchridosis; Sleep

Indexed keywords

ANTIHISTAMINIC AGENT; BENZODIAZEPINE; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BRONCHODILATING AGENT; CHLORAL HYDRATE; CHOLINERGIC RECEPTOR BLOCKING AGENT; GALSULFASE; GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; LARONIDASE; LYSOZYME; MELATONIN; PLACEBO; RECOMBINANT ENZYME; STEROID;

ADENOTONSILLECTOMY; AIRWAY CONSTRICTION; AIRWAY OBSTRUCTION; ANESTHESIA COMPLICATION; BRONCHUS OBSTRUCTION; CHRONIC OTITIS MEDIA; CLINICAL EVALUATION; CONDUCTION DEAFNESS; DRUG HYPERSENSITIVITY; ENZYME ACTIVITY; ENZYME REPLACEMENT; FACE DYSMORPHIA; FEVER; FLUSHING; GLYCOSAMINOGLYCAN METABOLISM; HEADACHE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HIGH RISK INFANT; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; LARYNGOMALACIA; LUNG EDEMA; MAROTEAUX LAMY SYNDROME; MORQUIO SYNDROME; MUCOPOLYSACCHARIDOSIS; PEDIATRIC ANESTHESIA; PERCEPTION DEAFNESS; PHYSICIAN ATTITUDE; PIGEON THORAX; PLETHYSMOGRAPH; PNEUMONIA; POSITIVE END EXPIRATORY PRESSURE; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; QUALITY OF LIFE; RECURRENT DISEASE; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; REVIEW; RHINITIS; SIDE EFFECT; SKELETON MALFORMATION; SLEEP APNEA SYNDROME; SPINAL CORD COMPRESSION; SURGICAL RISK; TRACHEOMALACIA; UNSPECIFIED SIDE EFFECT; UPPER RESPIRATORY TRACT OBSTRUCTION; URTICARIA;

GLYCOSAMINOGLYCANS; HUMANS; MUCOPOLYSACCHARIDOSES; RESPIRATORY TRACT DISEASES;

EID: 79953163996     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2010.10.005     Document Type: Review

References (48)

1. Souza-Fernandes A.B., Pelosi P., Rocco P.R. Bench-to-bedside review: the role of glycosaminoglycans in respiratory disease. Crit Care 2006, 10(6):237.
2. Ruijter G.J., Valstar M.J., van de Kamp J.M., van der Helm R.M., Durand S., van Diggelen O.P., et al. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 2008, 93(2):104-111.
3. Cleary M.A., Wraith J.E. Management of mucopolysaccharidosis type III. Arch Dis Child 1993, 69(3):403-406.
4. Northover H., Cowie R.A., Wraith J.E. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis 1996, 19(3):357-365.
5. Simmons M.A., Bruce I.A., Penney S., Wraith E., Rothera M.P. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2005, 69(5):589-595.
6. Wold S.M., Derkay C.S., Darrow D.H., Proud V. Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2010, 74(1):27-31.
7. Monzon M.E., Casalino-Matsuda S.M., Forteza R.M. Identification of glycosaminoglycans in human airway secretions. Am J Respir Cell Mol Biol 2006, 34(2):135-141.
8. Komura Y., Kaga K., Ogawa Y., Yamaguchi Y., Tsuzuku T., Suzuki J.I. ABR and temporal bone pathology in Hurler's disease. Int J Pediatr Otorhinolaryngol 1998, 43(2):179-188.
9. Spranger J. Morphological aspects of the mucopolysaccharidoses., Inborn Errors of Skin, Hair and Connective Tissue 1975, University Press, Baltimore, MD.
10. Schachern P.A., Cureoglu S., Tsuprun V., Paparella M.M., Whitley C.B. Age-related functional and histopathological changes of the ear in the MPS I mouse. Int J Pediatr Otorhinolaryngol 2007, 71(2):197-203.
11. Fujitani T., Kimura A., Inoue K., Okada S. Pathological and biochemical study in the adenoid of mucopolysaccharidosis II. Int J Pediatr Otorhinolaryngol 1985, 10(3):205-212.
12. Shih S.L., Lee Y.J., Lin S.P., Sheu C.Y., Blickman J.G. Airway changes in children with mucopolysaccharidoses. Acta Radiol 2002, 43(1):40-43.
13. Gaitini L., Fradis M., Vaida S., Collins G., Croitoru M., Somri M., et al. Failure to control the airway in a patient with Hunter's syndrome. J Laryngol Otol 1998, 112(4):380-382.
14. Kamin W. Diagnosis and management of respiratory involvement in Hunter syndrome. Acta Paediatr Suppl 2008, 97(457):57-60.
15. Shinhar S.Y., Zablocki H., Madgy D.N. Airway management in mucopolysaccharide storage disorders. Arch Otolaryngol Head Neck Surg 2004, 130(2):233-237.
16. Peters M.E., Arya S., Langer L.O., Gilbert E.F., Carlson R., Adkins W. Narrow trachea in mucopolysaccharidoses. Pediatr Radiol 1985, 15(4):225-228.
17. Keller C., Briner J., Schneider J., Spycher M., Rampini S., Gitzelmann R. [Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient]. Helv Paediatr Acta 1987, 42(4):317-333.
18. Sasaki C.T., Ruiz R., Gaito R., Kirchner J.A., Seshi B. Hunter's syndrome: a study in airway obstruction. Laryngoscope 1987, 97(3 Pt 1):280-285.
19. Brama I., Gay I., Feinmesser R., Springer C. Upper airway obstruction in Hunter syndrome. Int J Pediatr Otorhinolaryngol 1986, 11(3):229-235.
20. Adachi K., Chole R.A. Management of tracheal lesions in Hurler syndrome. Arch Otolaryngol Head Neck Surg 1990, 116(10):1205-1207.
21. Davitt S.M., Hatrick A., Sabharwal T., Pearce A., Gleeson M., Adam A. Tracheobronchial stent insertions in the management of major airway obstruction in a patient with Hunter syndrome (type-II mucopolysaccharidosis). Eur Radiol 2002, 12(2):458-462.
22. Rodriguez M.E., Mackenzie W.G., Ditro C., Miller T.L., Chidekel A., Shaffer T.H. Skeletal dysplasias: Evaluation with impulse oscillometry and thoracoabdominal motion analysis. Pediatr Pulmonol 2010, 45(7):679-686.
23. Semenza G.L., Pyeritz R.E. Respiratory complications of mucopolysaccharide storage disorders. Medicine (Baltimore) 1988, 67(4):209-219.
24. Shapiro J., Strome M., Crocker A.C. Airway obstruction and sleep apnea in Hurler and Hunter syndromes. Ann Otol Rhinol Laryngol 1985, 94(5 Pt 1):458-461.
25. Chan D., Li A.M., Yam M.C., Li C.K., Fok T.F. Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure. J Paediatr Child Health 2003, 39(7):558-559.
26. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004, 144(5 Suppl):S27-34.
27. Kurihara M., Kumagai K., Goto K., Imai M., Yagishita S. Severe type Hunter's syndrome. Polysomnographic and neuropathological study. Neuropediatrics 1992, 23(5):248-256.
28. Al Sawaf S., Mayatepek E., Hoffmann B. Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis 2008, 31(4):473-480.
29. Guerrero J.M., Pozo D., Diaz-Rodriguez J.L., Martinez-Cruz F., Vela-Campos F. Impairment of the melatonin rhythm in children with Sanfilippo syndrome. J Pineal Res 2006, 40(2):192-193.
30. Ashworth J.L., Biswas S., Wraith E., Lloyd I.C. Mucopolysaccharidoses and the eye. Surv Ophthalmol 2006, 51(1):1-17.
31. Canal M.M., Wilkinson F.L., Cooper J.D., Ed Wraith J., Wynn R., Bigger B.W. Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB. Behav Brain Res 2010, 209(2):212-220.
32. Fraser J., Gason A.A., Wraith J.E., Delatycki M.B. Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child 2005, 90(12):1239-1242.
33. Muenzer J., Beck M., Eng C.M., Escolar M.L., Giugliani R., Guffon N.H., et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009, 124(6):e1228-e1239.
34. Muenzer J., Wraith J.E., Clarke L.A. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 2009, 123(1):19-29.
35. Sifuentes M., Doroshow R., Hoft R., Mason G., Walot I., Diament M., et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007, 90(2):171-180.
36. Wraith J.E., Clarke L.A., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004, 144(5):581-588.
37. Fraser J., Wraith J.E., Delatycki M.B. Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin Genet 2002, 62(5):418-421.
38. Smith, R. 1980. Anaesthesia for infants and children. In Co., CM, editor, 4th ed, St. Louis. 533-536.
39. King D.H., Jones R.M., Barnett M.B. Anaesthetic considerations in the mucopolysaccharidoses. Anaesthesia 1984, 39(2):126-131.
40. Herrick I.A., Rhine E.J. The mucopolysaccharidoses and anaesthesia: a report of clinical experience. Can J Anaesth 1988, 35(1):67-73.
41. Moores C., Rogers J.G., McKenzie I.M., Brown T.C. Anaesthesia for children with mucopolysaccharidoses. Anaesth Intensive Care 1996, 24(4):459-463.
42. Belani K.G., Krivit W., Carpenter B.L., Braunlin E., Buckley J.J., Liao J.C., et al. Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings. J Pediatr Surg 1993, 28(3):403-408. discussion 408-10.
43. Yoskovitch A., Tewfik T.L., Brouillette R.T., Schloss M.D., Der Kaloustian V.M. Acute airway obstruction in Hunter syndrome. Int J Pediatr Otorhinolaryngol 1998, 44(3):273-278.
44. Walker R.W., Colovic V., Robinson D.N., Dearlove O.R. Postobstructive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses. Paediatr Anaesth 2003, 13(5):441-447.
45. Boelens J.J., Prasad V.K., Tolar J., Wynn R.F., Peters C. Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. Pediatr Clin North Am 2010, 57(1):123-145.
46. Clarke L.A., Wraith J.E., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009, 123(1):229-240.
47. Harmatz P., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., et al. 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 2006, 148(4):533-539.
48. Muenzer J., Wraith J.E., Beck M., Giugliani R., Harmatz P., Eng C.M., et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006, 8(8):465-473.