An Intractable Case of Hermansky-Pudlak Syndrome

Masaki Kanazu; Toru Arai; Chikatoshi Sugimoto; Masanori Kitaichi; Masanori Akira; Yuko Abe; Yutaka Hozumi; Tamio Suzuki; Yoshikazu Inoue

doi:10.2169/internalmedicine.53.2446

CASE REPORTS

An Intractable Case of Hermansky-Pudlak Syndrome

Masaki Kanazu, Toru Arai, Chikatoshi Sugimoto, Masanori Kitaichi, Masanori Akira, Yuko Abe, Yutaka Hozumi, Tamio Suzuki, Yoshikazu Inoue

Author information

Masaki Kanazu
Department of Internal Medicine, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
Toru Arai
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
Chikatoshi Sugimoto
Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
Masanori Kitaichi
Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
Department of Pathology, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
Masanori Akira
Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
Department of Radiology, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan
Yuko Abe
Department of Dermatology, Yamagata University Faculty of Medicine, Japan
Yutaka Hozumi
Department of Dermatology, Yamagata University Faculty of Medicine, Japan
Tamio Suzuki
Department of Dermatology, Yamagata University Faculty of Medicine, Japan
Yoshikazu Inoue
Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Japan

Keywords: Hermansky-Pudlak syndrome, usual interstitial pneumonia, diffuse alveolar damage, pirfenidone

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 22 Pages 2629-2634

DOI https://doi.org/10.2169/internalmedicine.53.2446

Details

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.

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