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.
摘要：
在这里，我们报道一例Hermansky-Pudlak综合征(HPS),其中呼吸道症状在吡非尼酮治疗后得到改善.一名43岁的日本妇女患有眼皮肤白化病，表现为咳嗽和呼吸困难。高分辨率计算机断层扫描显示网状和结霜的肺部混浊区域。出血时间延长和HPS1基因突变证实了HPS的诊断。一般来说,除了肺移植外,对于与HPS相关的间质性肺炎尚无有效的治疗方法.在目前的情况下,服用吡非尼酮可改善咳嗽和呼吸困难。因此,临床医生应在有挑战性的移植病例和等待移植期间给予吡非尼酮.
