• Internal medicine · Dec 2024

    Case Reports

    Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report.

    • Yoshinao Ono, Naoki Tode, Yuri Yamamoto, Chikashi Iwasaki, Shuichi Konno, Hatsumi Sugiyama, Takuto Endo, Shunichi Takeda, Shuichiro Matsumoto, Tadahisa Numakura, Tomohiro Ichikawa, Tsutomu Tamada, and Hisatoshi Sugiura.
    • Department of Respiratory Medicine, Tohoku University Graduate School of Medicine, Japan.
    • Intern. Med. 2024 Dec 15; 63 (24): 335333583353-3358.

    AbstractHerein, we report a case of Hermansky-Pudlak syndrome (HPS) in which respiratory symptoms improved with pirfenidone treatment. A 43-year-old Japanese woman with oculocutaneous albinism presented with a cough and dyspnea. High-resolution computed tomography revealed areas of reticular and frosted lung opacities. The diagnosis of HPS was confirmed by a prolonged bleeding time and HPS1 gene mutation. Generally, there is no effective treatment for interstitial pneumonia associated with HPS except for lung transplantation. In the present case, the cough and dyspnea improved with pirfenidone administration. Therefore, clinicians should administer pirfenidone in challenging transplantation cases and during the waiting period for transplantation.

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