Evaluation and management of pulmonary disease in ataxia-telangiectasia

Pediatric Pulmonology

Volumn 45, Issue 9, 2010, Pages 847-859

  McGrath Morrow, Sharon A ^a   Gower, W Adam ^a   Rothblum Oviatt, Cynthia ^b   Brody, Alan S ^c   Langston, Claire ^d   Fan, Leland L ^d   Lefton Greif, Maureen A ^a   Crawford, Thomas O ^a   Troche, Michelle ^e   Sandlund, John T ^f   Auwaerter, Paul G ^a   Easley, Blaine ^a   Loughlin, Gerald M ^g   Carroll, John L ^h   Lederman, Howard M ^a  

^a DEPARTMENT OF PATHOLOGY   (United States)

^b Ataxia Telangiectasia Children's Project   (United States)

^c UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF FLORIDA   (United States)

^f ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^g WEILL CORNELL MEDICAL COLLEGE   (United States)

^h UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Ataxia telangiectasia; Evaluation; Lung disease; Management

Indexed keywords

ANTIBIOTIC AGENT; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; HYDROXYCHLOROQUINE; IMMUNOGLOBULIN; MACROLIDE; PNEUMOCOCCUS VACCINE; STEROID;

AIRWAY OBSTRUCTION; ANTIBIOTIC THERAPY; ANTIBODY RESPONSE; ARTIFICIAL VENTILATION; ASPIRATION; ATAXIA TELANGIECTASIA; BACTERIAL COLONIZATION; BRONCHIECTASIS; BRONCHIOLITIS; BRONCHIOLITIS OBLITERANS; BULBAR PARALYSIS; CHRONIC RESPIRATORY FAILURE; CLINICAL ASSESSMENT; COMPUTER ASSISTED TOMOGRAPHY; COUGHING; CYSTIC FIBROSIS; DIET; DUCHENNE MUSCULAR DYSTROPHY; DYSPHAGIA; DYSPNEA; FEVER; FLUOROSCOPY; FORCED EXPIRATORY VOLUME; GENETIC COUNSELING; HAEMOPHILUS INFLUENZAE; HUMAN; HYPOXEMIA; IMMUNE RESPONSE; IMMUNIZATION; IMMUNOGLOBULIN DEFICIENCY; INFECTION SENSITIVITY; INFLAMMATION; INTERSTITIAL LUNG DISEASE; LUNG DISEASE; LUNG FIBROSIS; LUNG FUNCTION TEST; LUNG INFECTION; LUNG INFILTRATE; MORAXELLA CATARRHALIS; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL SUPPORT; OXIDATIVE STRESS; OXYGEN THERAPY; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOTHERAPY; POLYSOMNOGRAPHY; PREMATURE AGING; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; RECURRENT DISEASE; REVIEW; SINOPULMONARY INFECTION; SOCIAL SUPPORT; SPINAL MUSCULAR ATROPHY; SPIROMETRY; STEROID THERAPY; STOMACH TUBE; STREPTOCOCCUS PNEUMONIAE; TACHYPNEA; THORAX RADIOGRAPHY;

ATAXIA TELANGIECTASIA; BRONCHIECTASIS; DEGLUTITION DISORDERS; HUMANS; LUNG DISEASES, INTERSTITIAL; RESPIRATORY FUNCTION TESTS;

EID: 77957279926     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.21277     Document Type: Review

References (82)

1. Barzilai A, Rotman G, Shiloh Y. ATM deficiency and oxidative stress: a new dimension of defective response to DNA damage. DNA Repair (Amst) 2002;1:3-25. (Pubitemid 34475690)
2. Morio T, Kim H. Ku, Artemis, and ataxia-telangiectasia-mutated: signalling networks in DNA damage. Int J Biochem Cell Biol 2008;40:598-603.
3. Crawford TO. Ataxia telangiectasia. Semin Pediatr Neurol 1998; 5:287-294.
4. McKinnon PJ. ATM and ataxia telangiectasia. EMBO Rep 2004; 5:772-776.
5. Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006;1:47.
6. Bott L, Lebreton J, Thumerelle C, Cuvellier J, Deschildre A, Sardet A. Lung disease in ataxia-telangiectasia. Acta Paediatr 2007;96:1021-1024.
7. Buckley RH. Pulmonary complications of primary immunodeficiencies. Paediatr Respir Rev 2004;5:S225-S233.
8. Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM. Survival probability in ataxia telangiectasia. Arch Dis Child 2006;91:610-611.
9. Pagano G, Korkina LG, Brunk UT, Chessa L, Degan P, del Principe D, Kelly FJ, Malorni W, Pallardo F, Pasquier C, Scovassi I, Zatterale A, Franceschi C. Congenital disorders sharing oxidative stress and cancer proneness as phenotypic hallmarks: prospects for joint research in pharmacology. Med Hypotheses 1998;51:253-266.
10. Alder JK, Chen JJ, Lancaster L, Danoff S, Su SC, Cogan JD, Vulto I, Xie M, Qi X, Tuder RM, Phillips JA III, Lansdorp PM, Loyd JE, Armanios MY. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci USA 2008; 105:13051-13056.
11. Karrasch S, Holz O, Jorres RA. Aging and induced senescence as factors in the pathogenesis of lung emphysema. Respir Med 2008;102:1215-1230.
12. Lefton-Greif MA, Crawford TO, Winkelstein JA, Loughlin GM, Koerner CB, Zahurak M, Lederman HM. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr 2000;136:225-231.
13. Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 2004;144:505-511.
14. Schroeder SA, Swift M, Sandoval C, Langston C. Interstitial lung disease in patients with ataxia-telangiectasia. Pediatr Pulmonol 2005;39:537-543.
15. Berkun Y, Vilozni D, Levi Y, Borik S, Waldman D, Somech R, Nissenkorn A, Efrati O. Reversible airway obstruction in children with ataxia telangiectasia. Pediatr Pulmonol 2010;45:230-235.
16. Boder E. Ataxia-telangiectasia: some historic, clinical and pathologic observations. Birth Defects Orig Artic Ser 1975;11:255-270.
17. Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 1958;21: 526-554.
18. Moin M, Aghamohammadi A, Kouhi A, Tavassoli S, Rezaei N, Ghaffari SR, Gharagozlou M, Movahedi M, Purpak Z, Mirsaeid GB, Mahmoudi M, Farhoudi A. Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients. Pediatr Neurol 2007;37:21-28.
19. Ito M, Nakagawa A, Hirabayashi N, Asai J. Bronchiolitis obliterans in ataxia-telangiectasia. Virchows Arch 1997;430: 131-137.
20. Chang AB, Redding GJ, Everard ML. Chronic wet cough: protracted bronchitis, chronic suppurative lung disease and bronchiectasis. Pediatr Pulmonol 2008;43:519-531.
21. George AM, Jones PM, Middleton PG. Cystic fibrosis infections: treatment strategies and prospects. FEMS Microbiol Lett 2009; 300:153-164.
22. Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004;169:459-467. (Pubitemid 38187117)
23. Buehring I, Friedrich B, Schaaf J, Schmidt H, Ahrens P, Zielen S. Chronic sinusitis refractory to standard management in patients with humoral immunodeficiencies. Clin Exp Immunol 1997; 109:468-472.
24. Fauroux B, Tamalet A, Clement A. Management of primary ciliary dyskinesia: the lower airways. Paediatr Respir Rev 2009; 10:55-57.
25. Flume PA, O'Sullivan BP, Robinson KA, Goss CH, Mogayzel PJ, Jr., Willey-Courand DB, Bujan J, Finder J, Lester M, Quittell L, Rosenblatt R, Vender RL, Hazle L, Sabadosa K, Marshall B. Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. Am J Respir Crit Care Med 2007; 176:957-969.
26. O'Sullivan BP, Flume P. The clinical approach to lung disease in patients with cystic fibrosis. Semin Respir Crit Care Med 2009; 30:505-513.
27. McGrath-Morrow SA, Collaco JM, Crawford TO, Carson KA, Lefton-Greif MA, Zeitlin P, Lederman HM. Elevated serum IL-8 levels in ataxia telangiectasia. J Pediatr 2010;156:682-684.
28. Benden C, Boehler A. Long-term clarithromycin therapy in the management of lung transplant recipients. Transplantation 2009; 87:1538-1540.
29. Gottlieb J, Szangolies J, Koehnlein T, Golpon H, Simon A, Welte T. Long-term azithromycin for bronchiolitis obliterans syndrome after lung transplantation. Transplantation 2008;85:36-41.
30. Lopez-Boado YS, Rubin BK. Macrolides as immunomodulatory medications for the therapy of chronic lung diseases. Curr Opin Pharmacol 2008;8:286-291.
31. Crosbie PA, Woodhead MA. Long-term macrolide therapy in chronic inflammatory airway diseases. Eur Respir J 2009;33: 171-181.
32. Koyama H, Geddes DM. Erythromycin and diffuse panbronchiolitis. Thorax 1997;52:915-918.
33. Popa V, Colby TV, Reich SB. Pulmonary interstitial disease in Ig deficiency. Chest 2002;122:1594-1603.
34. Huber J, Zegers BJ, Schuurman HJ. Pathology of congenital immunodeficiencies. Semin Diagn Pathol 1992;9:31-62.
35. Canny GJ, Roifman C, Weitzman S, Braudo M, Levison H. A pulmonary infiltrate in a child with ataxia telangiectasia. Ann Allergy 1988;61:422-428.
36. Yalcin B, Kutluk MT, Sanal O, Akyuz C, Anadol D, Caglar M, Gocmen A, Buyukpamukcu M. Hodgkin's disease and ataxia telangiectasia with pulmonary cavities. Pediatr Pulmonol 2002; 33:399-403.
37. Chen RL, Wang PJ, Hsu YH, Chang PY, Fang JS. Severe lung fibrosis after chemotherapy in a child with ataxia-telangiectasia. J Pediatr Hematol Oncol 2002;24:77-79.
38. Sandoval C, Swift M. Treatment of lymphoid malignancies in patients with ataxia-telangiectasia. Med Pediatr Oncol 1998;31: 491-497.
39. Sandoval C, Swift M. Hodgkin disease in ataxia-telangiectasia patients with poor outcomes. Med Pediatr Oncol 2003;40:162-166. (Pubitemid 36110278)
40. McGrath-Morrow S, Lefton-Greif M, Rosquist K, Crawford T, Kelly A, Zeitlin P, Carson KA, Lederman HM. Pulmonary function in adolescents with ataxia telangiectasia. Pediatr Pulmonol 2008;43:59-66.
41. Miyazaki E, Ando M, Muramatsu T, Fukami T, Matsuno O, Nureki S, Ueno T, Tsuda T, Kumamoto T. Early assessment of rapidly progressive interstitial pneumonia associated with amyopathic dermatomyositis. Clin Rheumatol 2007;26:436-439.
42. Paiva MA, Amaral SM. Chronic interstitial lung diseases in children. J Bras Pneumol 2009;35:792-803.
43. Sapir T, Blank M, Shoenfeld Y. Immunomodulatory effects of intravenous immunoglobulins as a treatment for autoimmune diseases, cancer, and recurrent pregnancy loss. Ann N YAcad Sci 2005;1051:743-778. (Pubitemid 41362801)
44. Al Salmi QA, Walter JN, Colasurdo GN, Sockrider MM, Smith EO, Takahashi H, Fan LL. Serum KL-6 and surfactant proteins A and D in pediatric interstitial lung disease. Chest 2005;127:403-407.
45. Kohno N. Serum marker KL-6/MUC1 for the diagnosis and management of interstitial pneumonitis. J Med Invest 1999;46: 151-158.
46. Ohnishi H, Yokoyama A, Kondo K, Hamada H, Abe M, Nishimura K, Hiwada K, Kohno N. Comparative study of KL-6, surfactant protein-A, surfactant protein-D, and monocyte chemoattractant protein-1 as serum markers for interstitial lung diseases. Am J Respir Crit Care Med 2002;165:378-381.
47. Spector BD, Filipovich AH, Perry GS, Kersey JH. Epidemiology of cancer in ataxia-telangiectasia. In: Bridges BA, Harnden DG, editors. Ataxia-telangiectasia: a cellular and molecular ling between cancer, neuropathology, and immune deficiency. New York: Wiley; 1982. pp 103-138.
48. Crawford TO, Mandir AS, Lefton-Greif MA, Goodman SN, Goodman BK, Sengul H, Lederman HM. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology 2000;54:1505-1509.
49. Finder JD. A 2009 perspective on the 2004 American Thoracic Society statement, "respiratory care of the patient with Duchenne muscular dystrophy." Pediatrics 2009;123:S239-S241.
50. Rochester DF, Esau SA. Assessment of ventilatory function in patients with neuromuscular disease. Clin Chest Med 1994;15: 751-763. (Pubitemid 24371961)
51. Jackson CE, Rosenfeld J, Moore DH, Bryan WW, Barohn RJ, Wrench M, Myers D, Heberlin L, King R, Smith J, Gelinas D, Miller RG. A preliminary evaluation of a prospective study of pulmonary function studies and symptoms of hypoventilation in ALS/MND patients. J Neurol Sci 2001;191:75-78.
52. Soliman MG, Higgins SE, El Kabir DR, Davidson AC, Williams AJ, Howard RS. Non-invasive assessment of respiratory muscle strength in patients with previous poliomyelitis. Respir Med 2005;99:1217-1222.
53. Pitts T, Bolser D, Rosenbek J, Troche M, Okun MS, Sapienza C. Impact of expiratory muscle strength training on voluntary cough and swallow function in Parkinson disease. Chest 2009;135: 1301-1308.
54. Saleem AF, Sapienza CM, Okun MS. Respiratory muscle strength training: treatment and response duration in a patient with early idiopathic Parkinson's disease. NeuroRehabilitation 2005;20: 323-333.
55. Manzur AY, Kinali M, Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008;93:986-990.
56. Verhagen MM, van Deuren M, Willemsen MA, Van der Hoeven HJ, Heijdra YF, Yntema JB, Weemaes CM, Neeleman C. Ataxia-telangiectasia and mechanical ventilation: a word of caution. Pediatr Pulmonol 2009;44:101-102.
57. Svanes C, Sunyer J, Plana E, Dharmage S, Heinrich J, Jarvis D, de Marco R, Norback D, Raherison C, Villani S, Wjst M, Svanes K, Anto JM. Early life origins of chronic obstructive pulmonary disease. Thorax 2010; 65:14-20.
58. Carlsen KC, Haland G, Carlsen KH. Natural history of lung function in health and diseases. Curr Opin Allergy Clin Immunol 2009;9:146-150.
59. Carlsen KH, Carlsen KC. Respiratory effects of tobacco smoking on infants and young children. Paediatr Respir Rev 2008;9: 11-19.
60. Bianchi C, Baiardi P. Cough peak flows: standard values for children and adolescents. Am J Phys Med Rehabil 2008;87:461-467.
61. Beydon N, Davis SD, Lombardi E, Allen JL, Arets HG, Aurora P, Bisgaard H, Davis GM, Ducharme FM, Eigen H, Gappa M, Gaultier C, Gustafsson PM, Hall GL, Hantos Z, Healy MJ, Jones MH, Klug B, Lodrup Carlsen KC, McKenzie SA, Marchal F, Mayer OH, Merkus PJ, Morris MG, Oostveen E, Pillow JJ, Seddon PC, Silverman M, Sly PD, Stocks J, Tepper RS, Vilozni D, Wilson NM. An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool children. Am J Respir Crit Care Med 2007;175:1304-1345.
62. Pollard JM, Gatti RA. Clinical radiation sensitivity with DNA repair disorders: an overview. Int J Radiat Oncol Biol Phys 2009; 74:1323-1331.
63. Brody AS, Frush DP, Huda W, Brent RL. Radiation risk to children from computed tomography. Pediatrics 2007;120:677-682.
64. Owens C. Pearls and pitfalls in HRCT in children. Paediatr Respir Rev 2006;7:S44-S49.
65. Puderbach M, Eichinger M, Gahr J, Ley S, Tuengerthal S, Schmahl A, Fink C, Plathow C, Wiebel M, Muller FM, Kauczor HU. Proton MRI appearance of cystic fibrosis: comparison to CT. Eur Radiol 2007;17:716-724.
66. Mulkens TH, Broers C, Fieuws S, Termote JL, Bellnick P. Comparison of effective doses for low-dose MDCT and radiographic examination of sinuses in children. AJR Am J Roentgenol 2005;184:1611-1618. (Pubitemid 43821846)
67. Duerinckx AJ, Hall TR, Whyte AM, Lufkin R, Kangarloo H. Paranasal sinuses in pediatric patients by MRI: normal development and preliminary findings in disease. Eur J Radiol 1991;13: 107-112.
68. Lim WK, Ram B, Fasulakis S, Kane KJ. Incidental magnetic resonance image sinus abnormalities in asymptomatic Australian children. J Laryngol Otol 2003;117:969-972.
69. McGrath-Morrow SA, Sterni L, McGinley B, Lefton-Greif MA, Rosquist K, Lederman H. Polysomnographic values in adolescents with ataxia telangiectasia. Pediatr Pulmonol 2008;43:674-679.
70. Suresh S, Wales P, Dakin C, Harris MA, Cooper DG. Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population. J Paediatr Child Health 2005;41:500-503.
71. Testa MB, Pavone M, Bertini E, Petrone A, Pagani M, Cutrera R. Sleep-disordered breathing in spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil 2005;84:666-670. (Pubitemid 41248459)
72. Amin R, Bean J, Burklow K, Jeffries J. The relationship between sleep disturbance and pulmonary function in stable pediatric cystic fibrosis patients. Chest 2005;128:1357-1363. (Pubitemid 41324418)
73. Naqvi SK, Sotelo C, Murry L, Simakajornboon N. Sleep architecture in children and adolescents with cystic fibrosis and the association with severity of lung disease. Sleep Breath 2008; 12:77-83.
74. Stray-Pedersen A, Aaberge IS, Fruh A, Abrahamsen TG. Pneumococcal conjugate vaccine followed by pneumococcal polysaccharide vaccine; immunogenicity in patients with ataxia-telangiectasia. Clin Exp Immunol 2005;140:507-516.
75. Guerra-Maranhao MC, Costa-Carvalho BT, Nudelman V, Barros-Nunes P, Carneiro-Sampaio MM, Arslanian C, Nagao-Dias AT, Sole D. Response to polysaccharide antigens in patients with ataxia-telangiectasia. J Pediatr (Rio J) 2006;82:132-136.
76. Schubert R, Reichenbach J, Rose M, Zielen S. Immunogenicity of the seven valent pneumococcal conjugate vaccine in patients with ataxia-telangiectasia. Pediatr Infect Dis J 2004;23:269-270.
77. Committee on Infectious Diseases. Influenza. In: Pickering L, Baker C, Kimberlin D, Long S, editors. 2009 Report of the Committee on Infectious Diseases. Elk Grove Village: American Academy of Pediatrics; 2009.
78. Chapman KM, Winter L. COPD: using nutrition to prevent respiratory function decline. Geriatrics 1996;51:37-42. (Pubitemid 126614429)
79. Milla CE. Nutrition and lung disease in cystic fibrosis. Clin Chest Med 2007;28:319-330.
80. Finder JD, Birnkrant D, Carl J, Farber HJ, Gozal D, Iannaccone ST, Kovesi T, Kravitz RM, Panitch H, Schramm C, Schroth M, Sharma G, Sievers L, Silvestri JM, Sterni L. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med 2004;170:456-465.
81. Grosse SD, Schechter MS, Kulkarni R, Lloyd-Puryear MA, Strickland B, Trevathan E. Models of comprehensive multidisciplinary care for individuals in the United States with genetic disorders. Pediatrics 2009;123:407-412.
82. Homer CJ, Klatka K, Romm D, Kuhlthau K, Bloom S, Newacheck P, Van Cleave J, Perrin JM. A review of the evidence for the medical home for children with special health care needs. Pediatrics 2008;122:e922-e937.