An Intractable Case of Hermansky-Pudlak Syndrome
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- Kanazu Masaki
- Department of Internal Medicine, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
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- Arai Toru
- Department of Internal Medicine, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
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- Sugimoto Chikatoshi
- Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
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- Kitaichi Masanori
- Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan Department of Pathology, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
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- Akira Masanori
- Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan Department of Radiology, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
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- Abe Yuko
- Department of Dermatology, Yamagata University Faculty of Medicine, Japan
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- Hozumi Yutaka
- Department of Dermatology, Yamagata University Faculty of Medicine, Japan
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- Suzuki Tamio
- Department of Dermatology, Yamagata University Faculty of Medicine, Japan
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- Inoue Yoshikazu
- Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
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Abstract
A 52-year-old Japanese man with congenital amblyopia and oculocutaneous albinism was admitted to our hospital. Chest CT showed reticular opacities and traction bronchiectasis without honeycombing. Specimens obtained by a video-assisted thoracoscopic surgery showed patchy chronic fibrotic lesions. We diagnosed him with Hermansky-Pudlak syndrome (HPS). A mutation in the HPS1 gene was detected, and the diagnosis was confirmed. The patient was treated with prednisolone, pirfenidone, and azathioprine, but he nevertheless died within four months. Autopsy lung specimens showed diffuse alveolar damage suggesting comparatively rapid deterioration, although this presentation was not typical of an acute exacerbation. These pathological changes may be a possible progression pattern in HPS patients.<br>
Journal
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- Internal Medicine
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Internal Medicine 53 (22), 2629-2634, 2014
The Japanese Society of Internal Medicine