服用吡非尼酮后呼吸道症状有所改善的赫尔曼斯基-普德拉克综合征：病例报告。

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2024-12-15 Epub Date: 2024-05-09 DOI:10.2169/internalmedicine.3459-24

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

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引用次数: 0

摘要

在此，我们报告了一例赫尔曼斯基-普德拉克综合征（HPS）病例，该病例在接受吡非尼酮治疗后呼吸道症状有所改善。一名 43 岁的日本女性患者患有眼部白化病，出现咳嗽和呼吸困难。高分辨率计算机断层扫描显示肺部有网状和磨砂状不透明区域。出血时间延长和 HPS1 基因突变证实了 HPS 的诊断。一般来说，除肺移植外，对与 HPS 相关的间质性肺炎没有有效的治疗方法。在本病例中，服用吡非尼酮后咳嗽和呼吸困难得到了改善。因此，临床医生应在具有挑战性的移植病例和等待移植期间使用吡非尼酮。

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

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.

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来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.