Pulmonary Alveolar Proteinosis Syndrome

Clinics in Chest Medicine

Volumn 37, Issue 3, 2016, Pages 431-440

  Suzuki, Takuji ^a   Trapnell, Bruce C ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Alveolar macrophages; CSF2RA; CSF2RB; GM CSF; GM CSF autoantibody; GM CSF inhalation therapy; Pulmonary surfactant; Whole lung lavage

Indexed keywords

BIOLOGICAL MARKER; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; LACTATE DEHYDROGENASE; LUNG SURFACTANT; AUTOANTIBODY;

AGE; BRONCHOSCOPY; CLINICAL FEATURE; CSF2RA GENE; CSF2RB GENE; FORCED VITAL CAPACITY; GENE; GENE MUTATION; GENETIC DISORDER; GM CSF GENE; HEMATOLOGIC DISEASE; HISTOPATHOLOGY; HISTORY; HUMAN; LABORATORY TEST; LUNG ALVEOLUS PROTEINOSIS; LUNG DIFFUSION CAPACITY; LUNG DIFFUSION CAPACITY FOR CARBON MONOXIDE; LUNG FUNCTION TEST; LUNG LAVAGE; MICROBIOLOGICAL EXAMINATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; RESPIRATORY FAILURE; REVIEW; SEX DIFFERENCE; SIGNAL TRANSDUCTION; SURVIVAL; THORAX RADIOGRAPHY; WHOLE LUNG LAVAGE; AUTOIMMUNE DISEASES; IMMUNOLOGY; LUNG ALVEOLUS MACROPHAGE; METABOLISM; PULMONARY ALVEOLAR PROTEINOSIS;

AUTOANTIBODIES; AUTOIMMUNE DISEASES; BRONCHOALVEOLAR LAVAGE; GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; HUMANS; MACROPHAGES, ALVEOLAR; PULMONARY ALVEOLAR PROTEINOSIS; PULMONARY SURFACTANTS;

EID: 84991447815     PISSN: 02725231     EISSN: 15578216     Source Type: Journal    
DOI: 10.1016/j.ccm.2016.04.006     Document Type: Review

References (40)

1. 1 Rosen, S.G., Castleman, B., Liebow, A.A., Pulmonary alveolar proteinosis. N Engl J Med 258 (1958), 1123–1142.
2. 2 Seymour, J.F., Presneill, J.J., Pulmonary alveolar proteinosis: progress in the first 44 years. Am J Respir Crit Care Med 166 (2002), 215–235.
3. 3 Trapnell, B.C., Whitsett, J.A., Nakata, K., Pulmonary alveolar proteinosis. N Engl J Med 349 (2003), 2527–2539.
4. 4 Whitsett, J.A., Wert, S.E., Weaver, T.E., Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol 10 (2015), 371–393.
5. 5 Dranoff, G., Crawford, A.D., Sadelain, M., et al. Involvement of granulocyte-macrophage colony-stimulating factor in pulmonary homeostasis. Science 264 (1994), 713–716.
6. 6 Stanley, E., Lieschke, G.J., Grail, D., et al. Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology. Proc Natl Acad Sci U S A 91 (1994), 5592–5596.
7. 7 Nishinakamura, R., Nakayama, N., Hirabayashi, Y., et al. Mice deficient for the IL-3/GM-CSF/IL-5 beta c receptor exhibit lung pathology and impaired immune response, while beta IL3 receptor- deficient mice are normal. Immunity 2 (1995), 211–222.
8. 8 Robb, L., Drinkwater, C.C., Metcalf, D., et al. Hematopoietic and lung abnormalities in mice with a null mutation of the common beta subunit of the receptors for granulocyte-macrophage colony-stimulating factor and interleukins 3 and 5. Proc Natl Acad Sci U S A 92 (1995), 9565–9569.
9. 9 Kitamura, T., Tanaka, N., Watanabe, J., et al. Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. J Exp Med 190 (1999), 875–880.
10. 10 Sakagami, T., Uchida, K., Suzuki, T., et al. Human GM-CSF autoantibodies and reproduction of pulmonary alveolar proteinosis. N Engl J Med 361 (2009), 2679–2681.
11. 11 Inoue, Y., Trapnell, B.C., Tazawa, R., et al. Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan. Am J Respir Crit Care Med 177 (2008), 752–762.
12. 12 Martinez-Moczygemba, M., Doan, M.L., Elidemir, O., et al. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med 205 (2008), 2711–2716.
13. 13 Suzuki, T., Maranda, B., Sakagami, T., et al. Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations. Eur Respir J 37 (2011), 201–204.
14. 14 Suzuki, T., Sakagami, T., Rubin, B.K., et al. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med 205 (2008), 2703–2710.
15. 15 Suzuki, T., Sakagami, T., Young, L.R., et al. Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med 182 (2010), 1292–1304.
16. 16 Tanaka, T., Motoi, N., Tsuchihashi, Y., et al. Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. J Med Genet 48 (2011), 205–209.
17. 17 Ishii, H., Tazawa, R., Kaneko, C., et al. Clinical features of secondary pulmonary alveolar proteinosis: pre-mortem cases in Japan. Eur Respir J 37 (2011), 465–468.
18. 18 Parenti, G., Sebastio, G., Strisciuglio, P., et al. Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course. J Pediatr 126 (1995), 246–251.
19. 19 Hadchouel, A., Wieland, T., Griese, M., et al. Biallelic mutations of Methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Reunion Island. Am J Hum Genet 96 (2015), 826–831.
20. 20 Hildebrandt, J., Yalcin, E., Bresser, H.G., et al. Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis. Orphanet J Rare Dis, 9, 2014, 171.
21. 21 Ishii, H., Seymour, J.F., Tazawa, R., et al. Secondary pulmonary alveolar proteinosis complicating myelodysplastic syndrome results in worsening of prognosis: a retrospective cohort study in Japan. BMC Pulm Med, 14, 2014, 37.
22. 22 Bonella, F., Bauer, P.C., Griese, M., et al. Pulmonary alveolar proteinosis: new insights from a single-center cohort of 70 patients. Respir Med 105 (2011), 1908–1916.
23. 23 Campo, I., Mariani, F., Rodi, G., et al. Assessment and management of pulmonary alveolar proteinosis in a reference center. Orphanet J Rare Dis, 8, 2013, 40.
24. 24 Xu, Z., Jing, J., Wang, H., et al. Pulmonary alveolar proteinosis in China: a systematic review of 241 cases. Respirology 14 (2009), 761–766.
25. 25 Presneill, J.J., Nakata, K., Inoue, Y., et al. Pulmonary alveolar proteinosis. Clin Chest Med 25 (2004), 593–613 viii.
26. 26 Uchida, K., Nakata, K., Carey, B., et al. Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis. J Immunol Methods 402 (2014), 57–70.
27. 27 Beccaria, M., Luisetti, M., Rodi, G., et al. Long-term durable benefit after whole lung lavage in pulmonary alveolar proteinosis. Eur Respir J 23 (2004), 526–531.
28. 28 Cordonnier, C., Fleury-Feith, J., Escudier, E., et al. Secondary alveolar proteinosis is a reversible cause of respiratory failure in leukemic patients. Am J Respir Crit Care Med 149 (1994), 788–794.
29. 29 Hamvas, A., Nogee, L.M., Mallory, G.B. Jr., et al. Lung transplantation for treatment of infants with surfactant protein B deficiency. J Pediatr 130 (1997), 231–239.
30. 30 Akasaka, K., Tanaka, T., Kitamura, N., et al. Outcome of corticosteroid administration in autoimmune pulmonary alveolar proteinosis: a retrospective cohort study. BMC Pulm Med, 15, 2015, 88.
31. 31 Seymour, J.F., Dunn, A.R., Vincent, J.M., et al. Efficacy of granulocyte-macrophage colony-stimulating factor in acquired alveolar proteinosis. N Engl J Med 335 (1996), 1924–1925.
32. 32 Venkateshiah, S.B., Yan, T.D., Bonfield, T.L., et al. An open-label trial of granulocyte macrophage colony stimulating factor therapy for moderate symptomatic pulmonary alveolar proteinosis. Chest 130 (2006), 227–237.
33. 33 Tazawa, R., Hamano, E., Arai, T., et al. Granulocyte-macrophage colony-stimulating factor and lung immunity in pulmonary alveolar proteinosis. Am J Respir Crit Care Med 171 (2005), 1142–1149.
34. 34 Tazawa, R., Trapnell, B.C., Inoue, Y., et al. Inhaled granulocyte/macrophage-colony stimulating factor as therapy for pulmonary alveolar proteinosis. Am J Respir Crit Care Med 181 (2010), 1345–1354.
35. 35 Tazawa, R., Inoue, Y., Arai, T., et al. Duration of benefit in patients with autoimmune pulmonary alveolar proteinosis after inhaled granulocyte-macrophage colony-stimulating factor therapy. Chest 145 (2014), 729–737.
36. 36 Amital, A., Dux, S., Shitrit, D., et al. Therapeutic effectiveness of rituximab in a patient with unresponsive autoimmune pulmonary alveolar proteinosis. Thorax 65 (2010), 1025–1026.
37. 37 Borie, R., Debray, M.P., Laine, C., et al. Rituximab therapy in autoimmune pulmonary alveolar proteinosis. Eur Respir J 33 (2009), 1503–1506.
38. 38 Malur, A., Kavuru, M.S., Marshall, I., et al. Rituximab therapy in pulmonary alveolar proteinosis improves alveolar macrophage lipid homeostasis. Respir Res, 13, 2012, 46.
39. 39 Kavuru, M.S., Bonfield, T.L., Thomassen, M.J., Plasmapheresis, GM-CSF, and alveolar proteinosis. Am J Respir Crit Care Med, 167, 2003, 1036 [author reply: 1036–7].
40. 40 Suzuki, T., Arumugam, P., Sakagami, T., et al. Pulmonary macrophage transplantation therapy. Nature 514 (2014), 450–454.