Pulmonary fibrosis in Hermansky-Pudlak syndrome

Annals of the American Thoracic Society

Volumn 13, Issue 10, 2016, Pages 1839-1846

  Vicary, Glenn W ^a   Vergne, Yeidyly ^b   Santiago Cornier, Alberto ^b   Young, Lisa R ^c   Roman, Jesse ^a,d  

^a University of Louisville School of Medicine   (United States)

^b PONCE HEALTH SCIENCES UNIVERSITY   (Puerto Rico)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Genetics; Hermansky Pudlak syndrome; Oculocutaneous albinism; Pulmonary fibrosis

Indexed keywords

BIOLOGICAL MARKER; NINTEDANIB; PIRFENIDONE; HPS1 PROTEIN, HUMAN; INDOLE DERIVATIVE; MEMBRANE PROTEIN; PYRIDONE DERIVATIVE;

CLINICAL FEATURE; CLINICAL TRIAL; DISEASE COURSE; DYSPNEA; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPOPIGMENTATION; LUNG FIBROSIS; LUNG TRANSPLANTATION; NONHUMAN; OCULAR ALBINISM; PATHOGENESIS; REVIEW; ANIMAL; COMPLICATION; ETHNOLOGY; GENETICS; HISPANIC; MOUSE; MUTATION; PUERTO RICO; PULMONARY FIBROSIS; RANDOMIZED CONTROLLED TRIAL (TOPIC); X-RAY COMPUTED TOMOGRAPHY;

ANIMALS; BIOMARKERS; DISEASE PROGRESSION; HERMANSKI-PUDLAK SYNDROME; HISPANIC AMERICANS; HUMANS; INDOLES; LUNG TRANSPLANTATION; MEMBRANE PROTEINS; MICE; MUTATION; PUERTO RICO; PULMONARY FIBROSIS; PYRIDONES; RANDOMIZED CONTROLLED TRIALS AS TOPIC; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84992533410     PISSN: 23256621     EISSN: None     Source Type: Journal    
DOI: 10.1513/AnnalsATS.201603-186FR     Document Type: Review

References (66)

1. Ley B, Collard HR. Epidemiology of idiopathic pulmonary fibrosis. Clin Epidemiol 2013;5:483-492.
2. Kropski JA, Lawson WE, Blackwell TS. Right place, right time: The evolving role of herpesvirus infection as a "second hit" in idiopathic pulmonary fibrosis. Am J Physiol Lung Cell Mol Physiol 2012;302: L441-L444.
3. Selman M, Lin HM, Montaño M, Jenkins AL, Estrada A, Lin Z, Wang G, DiAngelo SL, Guo X, Umstead TM, et al. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. Hum Genet 2003;113:542-550.
4. Thomas AQ, Lane K, Phillips J III, Prince M, Markin C, Speer M, Schwartz DA, Gaddipati R, Marney A, Johnson J, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002;165: 1322-1328.
5. Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, Loyd JE, Fingerlin TE, Zhang W, Gudmundsson G, Groshong SDgh, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med 2011;364:1503-1512.
6. TrǍilǍ D, MlǍdinescu OF, Oancea C, Tudorache V. Short telomeres in pulmonary fibrosis: from genetics to clinical significance. Pneumologia 2015;64:8, 11-13.
7. Yousaf S, Shahzad M, Kausar T, Sheikh SA, Tariq N, Shabbir AS, Ali M, Waryah AM, Shaikh RS, Riazuddin S, et al.; University of Washington Center for Mendelian Genomics. Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. Pigment Cell Melanoma Res 2016;29:231-235.
8. Gahl WA, Huizing M. Hermansky-Pudlak syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, et al., editors. GeneReviews [2000 Jul 24; updated 2014 Dec 11; accessed 2016 Aug 27]. Seattle, WA: University of Washington; 1993-2016. Available from: http://www. ncbi.nlm.nih.gov/pubmed/20301464
9. Santiago Borrero PJ, Rodriguez-Perez Y, Renta JY, Izquierdo NJ, Del Fierro L, Munoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol 2006;126:85-90.
10. Witkop CJ, Almadovar C, Piñeiro B, Nuñez Babcock M. Hermansky-Pudlak syndrome (HPS): an epidemiologic study. Ophthalmic Paediatr Genet 1990;11:245-250.
11. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959;14: 162-169.
12. Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. BioEssays 2004;26:616-628.
13. Wei ML. Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function. Pigment Cell Res 2006;19:19-42.
14. Sá nchez-Guiu I, Torregrosa JM, Velasco F, Antó n AI, Lozano ML, Vicente V, Rivera J. Hermansky-Pudlak syndrome: overview of clinical and molecular features and case report of a new HPS-1 variant. Hamostaseologie 2014;34:301-309.
15. Kelil T, Shen J, O'Neill AC, Howard SA. Hermansky-Pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications. J Clin Imaging Sci 2014; 4:59.
16. Witkop CJ, Nuñez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R 1990;82:333-339.
17. Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001; 28:376-380.
18. Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, et al. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. J Invest Dermatol 2011;131: 2394-2400.
19. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996;14: 300-306.
20. Hurford MT, Sebastiano C. Hermansky-Pudlak syndrome: report of a case and review of the literature. Int J Clin Exp Pathol 2008;1: 550-554.
21. Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 2003; 278:20332-20337.
22. Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA. Nonsense mutations in ADTB3A cause complete deficiency of the b3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 2002;51:150-158.
23. Carter BW. Hermansky-Pudlak syndrome complicated by pulmonary fibrosis. Proc (Bayl Univ Med Cent) 2012;25:76-77.
24. Wasmeier C, Romao M, Plowright L, Bennett DC, Raposo G, Seabra MC. Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes. J Cell Biol 2006;175:271-281.
25. Mumford AD, Frelinger AL III, Gachet C, Gresele P, Noris P, Harrison P, Mezzano D. A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders. Thromb Haemost 2015;114: 14-25.
26. Ikawa Y, Hess R, Dorward H, Cullinane AR, Huizing M, Gochuico BR, Gahl WA, Candotti F. In vitro functional correction of Hermansky-Pudlak syndrome type-1 by lentiviral-mediated gene transfer. Mol Genet Metab 2015;114:62-65.
27. Zhang L, Yu K, Robert KW, DeBolt KM, Hong N, Tao JQ, Fukuda M, Fisher AB, Huang S. Rab38 targets to lamellar bodies and normalizes their sizes in lung alveolar type II epithelial cells. Am J Physiol Lung Cell Mol Physiol 2011;301:L461-L477.
28. Shotelersuk V, Gahl WA. Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab 1998;65:85-96.
29. Seward SL Jr, Gahl WA. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics 2013;132:153-160.
30. American Thoracic Society; European Respiratory Society. American Thoracic Society/European Respiratory Society international multidisciplinary consensus classification of the idiopathic interstitial pneumonias. Am J Respir Crit Care Med 2002;165:277-304.
31. Raghu G, Collard HR, Egan JJ, Martinez FJ, Behr J, Brown KK, Colby TV, Cordier JF, Flaherty KR, Lasky JA, et al.; ATS/ERS/JRS/ALAT Committee on Idiopathic Pulmonary Fibrosis. An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidencebased guidelines for diagnosis and management. Am J Respir Crit Care Med 2011;183:788-824.
32. Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 2002;76:234-242.
33. King TE Jr, Pardo A, Selman M. Idiopathic pulmonary fibrosis. Lancet 2011;378:1949-1961.
34. Phan SH. Genesis of the myofibroblast in lung injury and fibrosis. Proc Am Thorac Soc 2012;9:148-152.
35. Rouhani FN, Brantly ML, Markello TC, Helip-Wooley A, O'Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR. Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. Am J Respir Crit Care Med 2009;180:1114-1121.
36. Inoshima I, Kuwano K, Hamada N, Hagimoto N, Yoshimi M, Maeyama T, Takeshita A, Kitamoto S, Egashira K, Hara N. Antimonocyte chemoattractant protein-1 gene therapy attenuates pulmonary fibrosis in mice. Am J Physiol Lung Cell Mol Physiol 2004; 286:L1038-L1044.
37. Henderson NC, Mackinnon AC, Farnworth SL, Kipari T, Haslett C, Iredale JP, Liu FT, Hughes J, Sethi T. Galectin-3 expression and secretion links macrophages to the promotion of renal fibrosis. Am J Pathol 2008;172:288-298.
38. Cullinane AR, Yeager C, Dorward H, Carmona-Rivera C, Wu HP, Moss J, O'Brien KJ, Nathan SD, Meyer KC, Rosas IO, et al. Dysregulation of galectin-3: implications for Hermansky-Pudlak syndrome pulmonary fibrosis. Am J Respir Cell Mol Biol 2014;50:605-613.
39. Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B. Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med 2014;190:1395-1401.
40. Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. Mouse models of Hermansky Pudlak syndrome: A review. Pigment Cell Res 1998;11:60-80.
41. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002;30:321-324.
42. Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003;33:145-153.
43. Feng GH, Bailin T, Oh J, Spritz RA. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare "AT-AC" intron. Hum Mol Genet 1997;6:793-797.
44. Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, Puri N, Finger JN, Hagiwara N, Lehman AL, et al. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci USA 1997;94: 9238-9243.
45. Feng L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS, et al. The b3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 1999;8:323-330.
46. Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics 2001;78: 30-37.
47. Tang X, Yamanaka S, Miyagi Y, Nagashima Y, Nakatani Y. Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. Pathol Int 2005;55:137-143.
48. Young LR, Pasula R, Gulleman PM, Deutsch GH, McCormack FX. Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis. Am J Respir Cell Mol Biol 2007;37:67-74.
49. Young LR, Borchers MT, Allen HL, Gibbons RS, McCormack FX. Lungrestricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome. J Immunol 2006;176:4361-4368.
50. Lyerla TA, Rusiniak ME, Borchers M, Jahreis G, Tan J, Ohtake P, Novak EK, Swank RT. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol 2003;285:L643-L653.
51. Mahavadi P, Korfei M, Henneke I, Liebisch G, Schmitz G, Gochuico BR, Markart P, Bellusci S, Seeger W, Ruppert C, et al. Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia. Am J Respir Crit Care Med 2010;182:207-219.
52. Young LR, Gulleman PM, Bridges JP, Weaver TE, Deutsch GH, Blackwell TS, McCormack FX. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med 2012;186:1014-1024.
53. Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, et al. Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease. J Clin Invest 2015;125:3178-3192.
54. Ahuja S, Knudsen L, Chillappagari S, Henneke I, Ruppert C, Korfei M, Gochuico BR, Bellusci S, Seeger W, Ochs M, et al. MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro. Am J Physiol Lung Cell Mol Physiol 2016;310:L519-L531.
55. Rapaport SI. Preoperative hemostatic evaluation: which tests, if any? Blood 1983;61:229-231.
56. Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987;26:305-311.
57. Zhou L, Schmaier AH. Platelet aggregation testing in platelet-rich plasma: description of procedures with the aim to develop standards in the field. Am J Clin Pathol 2005;123:172-183.
58. Chakradhar S. Insurance companies are slow to cover next-generation sequencing. Nat Med 2015;21:204-205.
59. Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl WA. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol 2002;179:887-892.
60. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000;117: 129-136.
61. Leitman BS, Balthazar EJ, Garay SM, Naidich DP, McCauley DI. The Hermansky-Pudlak syndrome: radiographic features. Can Assoc Radiol J 1986;37:42-45.
62. Lederer DJ, Kawut SM, Sonett JR, Vakiani E, Seward SL Jr, White JG, Wilt JS, Marboe CC, Gahl WA, Arcasoy SM. Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome. J Heart Lung Transplant 2005;24: 1697-1699.
63. Tomczyk S, Bennett NM, Stoecker C, Gierke R, Moore MR, Whitney CG, Hadler S, Pilishvili T; Centers for Disease Control and Prevention (CDC). Use of 13-valent pneumococcal conjugate vaccine and 23-valent pneumococcal polysaccharide vaccine among adults aged >65 years: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Morb Mortal Wkly Rep 2014;63:822-825.
64. King TE Jr, Bradford WZ, Castro-Bernardini S, Fagan EA, Glaspole I, Glassberg MK, Gorina E, Hopkins PM, Kardatzke D, Lancaster L, et al.; ASCEND Study Group. A phase 3 trial of pirfenidone in patients with idiopathic pulmonary fibrosis. N Engl J Med 2014;370: 2083-2092.
65. Azuma A, Taguchi Y, Ogura T, Ebina M, Taniguchi H, Kondoh Y, Suga M, Takahashi H, Nakata K, Sato A, et al.; Pirfenidone Clinical Study Group in Japan. Exploratory analysis of a phase III trial of pirfenidone identifies a subpopulation of patients with idiopathic pulmonary fibrosis as benefiting from treatment. Respir Res 2011; 12:143.
66. O'Brien K, Troendle J, Gochuico BR, Markello TC, Salas J, Cardona H, Yao J, Bernardini I, Hess R, Gahl WA. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 2011;103:128-134.