Abstract：
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that often causes progressive pulmonary fibrosis (HPS-PPF) in some genetic types with high mortality rates. No effective treatment for HPS-PPF other than lung transplantation has been established. Herein, we report a case of HPS type 1 with progressive pulmonary fibrosis treated with long-term nintedanib administration followed by lung transplantation. The resected lungs revealed diffuse interstitial lung lesions, including fibroblastic foci, suggesting the potential beneficial effects of anti-fibrotic drugs in HPS-PPF. Together with previous reports, the present case suggests that nintedanib might be a safe and effective drug for HPS-PPF.
摘要：
Hermansky-Pudlak综合征（HPS）是一种罕见的常染色体隐性遗传疾病，通常在某些遗传类型中引起进行性肺纤维化（HPS-PPF），死亡率很高。除肺移植外，尚未建立有效的HPS-PPF治疗方法。在这里，我们报告了1例HPS1型进行性肺纤维化患者长期服用尼达尼布，然后进行肺移植。切除的肺显示弥漫性肺间质病变，包括成纤维细胞病灶,提示抗纤维化药物在HPS-PPF中的潜在有益作用。连同以前的报告，本病例提示尼达尼布可能是治疗HPS-PPF的安全有效药物.
