An intractable case of Hermansky-Pudlak syndrome.

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.

• Authors: Masaki Kanazu, Toru Arai, Chikatoshi Sugimoto, Masanori Kitaichi, Masanori Akira, Yuko Abe, Yutaka Hozumi, Tamio Suzuki, Yoshikazu Inoue
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 53 Issue 22 Pg. 2629-34 ( 2014) ISSN: 1349-7235 [Electronic] Japan
• PMID: 25400188 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• HPS1 protein, human
• Immunosuppressive Agents
• Membrane Proteins

Topics

• Autopsy
• Hermanski-Pudlak Syndrome (diagnosis, drug therapy, pathology)
• Humans
• Immunosuppressive Agents (therapeutic use)
• Lung (pathology)
• Male
• Membrane Proteins
• Middle Aged
• Mutation
• Thoracic Surgery, Video-Assisted
• Tomography, X-Ray Computed