Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia

Internal Medicine

Volumn 53, Issue 5, 2014, Pages 449-453

  Furuhashi, Kazuki ^a   Enomoto, Noriyuki ^a   Fujisawa, Tomoyuki ^a   Hashimoto, Dai ^a   Inui, Naoki ^a   Nakamura, Yutaro ^a   Suda, Takafumi ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Hermansky Pudlak syndrome; HPS1; Nonspecific interstitial pneumonia

Indexed keywords

CYCLOSPORIN A; LACTATE DEHYDROGENASE; PIRFENIDONE; PREDNISOLONE;

ADULT; ANOREXIA; ARTICLE; BLOOD GAS ANALYSIS; BREATHING RATE; CASE REPORT; CELL INFILTRATION; CONTROLLED STUDY; DEATH; DISEASE EXACERBATION; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HOME OXYGEN THERAPY; HUMAN; HUMAN TISSUE; INTERSTITIAL PNEUMONIA; LUNG BIOPSY; LUNG FUNCTION TEST; LUNG LAVAGE; LUNG VOLUME; MIDDLE AGED; OCULAR ALBINISM; THORAX RADIOGRAPHY; BIOPSY; COMPLICATION; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; FATALITY; HERMANSKI-PUDLAK SYNDROME; LUNG DISEASES, INTERSTITIAL;

BIOPSY; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; LUNG DISEASES, INTERSTITIAL; MIDDLE AGED; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84895143126     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.53.1311     Document Type: Article

References (20)

1. Oh J, Ho L, Ala-Mello S, et al. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 62: 593-598, 1998.
2. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 19: 19-42, 2006.
3. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizuig 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 117: 129-136, 2000.
4. Kobashi Y, Yoshida K, Miyashita N, Niki Y, Matsushima T. Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HPS1 gene. Intern Med 44: 616-621, 2005.
5. Iwakawa J, Matsuyama W, Watanabe M, et al. Hermansky-Pudlak syndrome with a novel mutation. Intern Med 44: 733-738, 2005.
6. Gahl WA, Brantly M, Troendle J, et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 76: 234-242, 2002.
7. O'Brien K, Troendle J, Gochuico BR, et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 103: 128-134, 2011.
8. Pierson DM, Ionescu D, Qing G, et al. Pulmonary fibrosis in Hermansky-Pudlak syndrome. Respiration 73: 382-395, 2006.
9. Lederer DJ, Kawut SM, Sonett JR, et al. Successful bilateral lung transplantation for pulmonary fibrosis associated with Hermansky- Pudlak syndrome. J Heart Lung Transplant 24: 1697-1699, 2005.
10. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigment reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14: 162-169, 1959.
11. Gahl WA, Brantly M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338: 1258-1264, 1998.
12. Suzuki T, Tomita Y. Recent advances in genetic analyses of oculocutaneous albinism type 2 and 4. J Dermatol Sci 51: 1-9, 2008.
13. Ito S, Suzuki T, Inagaki K, et al. High frequency of Hermansky- Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol 125: 715-720, 2005.
14. Nakatani Y, Nakamura N, Sano J, et al. Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/ degeneration (giant lamellar body generation) of type-2 pneumocytes. Virchows Arch 437: 304-313, 2000.
15. Mahavadi P, Korfei M, Henneke I, et al. Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia. Am J Respir Crit Care Med 182: 207-219, 2010.
16. Atochina-Vasserman EN, Bates SR, Zhang P, et al. Early alveolar epithelial dysfunction promotes lung inflammation in mouse model of Hermansky-Pudlak syndrome. Am J Respir Crit Care Med 184: 449-458, 2011.
17. American Thoracic Society/European Respiratory Society International Multidisciplinary Consensus Classification of Idiopathic Interstitial Pneumonias. This joint statement of the American Thoracic Society (ATS), and the European Respiratory Society (ERS) was adopted by the ATS board of directors, June 2001 and by the ERS Executive Committee, June 2001. Am J Respir Crit Care Med 165: 277-304, 2002.
18. Fujiwara T, Kikuchi S, Kataoka K, et al. A case of Hermansky- Pudlak syndrome with interstitial pneumonia. Jpn J Chest Dis 67: 340-346, 2008 (in Japanese).
19. Azuma A, Taguchi Y, Ogura T, et al. Exploratory analysis of phase III trial of pirfenidone identifies a subpopulation of patients with idiopathic pulmonary fibrosis as benefiting from treatment. Respir Res 12: 143, 2011.
20. Okazaki A, Ohkura N, Fujimura M, Katayama N, Kasahara K. Effect of pirfenidone on increased cough reflex sensitivity in guinea pigs. Pulm Pharmacol Ther 26: 603-608, 2013.