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Updated: Jan 6, 2026

Refined Murine Model of Idiopathic Pulmonary Fibrosis
Published on: June 17, 2025
Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia
Kazuki Furuhashi1, Noriyuki Enomoto, Tomoyuki Fujisawa
1The Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.
Abstract:
We herein report a case of Hermansky-Pudlak syndrome (HPS) with nonspecific interstitial pneumonia (NSIP). A 58-year-old Japanese woman presented with oculocutaneous albinism and dyspnea on exertion. A high resolution computed tomography scan showed areas of reticular and ground glass opacity in the lungs, and a surgical lung biopsy revealed fibrotic NSIP. Foamy type 2 pneumocytes and the absence of dense granules in platelets were also observed, consistent with a diagnosis of HPS. Ultimately, a genetic analysis revealed a mutation in the HPS1 gene. The interstitial pneumonia progressed despite treatment with prednisolone, cyclosporine A and pirfenidone. In this report, we discuss the pathological lung features and treatment of HPS associated with interstitial pneumonia.
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