Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone

Yoshinao Ono; Naoki Tode; Yuri Yamamoto; Chikashi Iwasaki; Shuichi Konno; Hatsumi Sugiyama; Takuto Endo; Shunichi Takeda; Shuichiro Matsumoto; Tadahisa Numakura; Tomohiro Ichikawa; Tsutomu Tamada; Hisatoshi Sugiura

doi:10.2169/internalmedicine.3459-24

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone

Yoshinao Ono, Naoki Tode, Yuri Yamamoto, Chikashi Iwasaki, Shuichi Konno, Hatsumi Sugiyama, Takuto Endo, Shunichi Takeda, Shuichiro Matsumoto, Tadahisa Numakura, Tomohiro Ichikawa, Tsutomu Tamada, Hisatoshi Sugiura

Tohoku University

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Herein, 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.

Original language	English
Pages (from-to)	3353-3358
Number of pages	6
Journal	Internal Medicine
Volume	63
Issue number	24
DOIs	https://doi.org/10.2169/internalmedicine.3459-24
Publication status	Published - 2024

Keywords

HPS1
Hermansky-Pudlak syndrome
interstitial pneumonia
pirfenidone

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10.2169/internalmedicine.3459-24

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Ono, Y., Tode, N., Yamamoto, Y., Iwasaki, C., Konno, S., Sugiyama, H., Endo, T., Takeda, S., Matsumoto, S., Numakura, T., Ichikawa, T., Tamada, T., & Sugiura, H. (2024). Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone. Internal Medicine, 63(24), 3353-3358. https://doi.org/10.2169/internalmedicine.3459-24

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title = "Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone",

abstract = "Herein, 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.",

keywords = "HPS1, Hermansky-Pudlak syndrome, interstitial pneumonia, pirfenidone",

author = "Yoshinao Ono and Naoki Tode and Yuri Yamamoto and Chikashi Iwasaki and Shuichi Konno and Hatsumi Sugiyama and Takuto Endo and Shunichi Takeda and Shuichiro Matsumoto and Tadahisa Numakura and Tomohiro Ichikawa and Tsutomu Tamada and Hisatoshi Sugiura",

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year = "2024",

doi = "10.2169/internalmedicine.3459-24",

language = "English",

volume = "63",

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Ono, Y , Tode, N, Yamamoto, Y, Iwasaki, C, Konno, S, Sugiyama, H, Endo, T, Takeda, S, Matsumoto, S, Numakura, T, Ichikawa, T, Tamada, T & Sugiura, H 2024, 'Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone', Internal Medicine, vol. 63, no. 24, pp. 3353-3358. https://doi.org/10.2169/internalmedicine.3459-24

TY - JOUR

T1 - Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone

AU - Ono, Yoshinao

AU - Tode, Naoki

AU - Yamamoto, Yuri

AU - Iwasaki, Chikashi

AU - Konno, Shuichi

AU - Sugiyama, Hatsumi

AU - Endo, Takuto

AU - Takeda, Shunichi

AU - Matsumoto, Shuichiro

AU - Numakura, Tadahisa

AU - Ichikawa, Tomohiro

AU - Tamada, Tsutomu

AU - Sugiura, Hisatoshi

PY - 2024

Y1 - 2024

N2 - Herein, 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.

AB - Herein, 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.

KW - HPS1

KW - Hermansky-Pudlak syndrome

KW - interstitial pneumonia

KW - pirfenidone

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JO - Internal Medicine

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ER -

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone

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