Ciledağ Aydın, Cirit Koçer Burcu, Köktürk Nurdan, Kaya Akın, Celik Gökhan, Numanoğlu Numan
Department of Chest Diseases, Faculty of Medicine, Ankara University, Ankara, Turkey.
Tuberk Toraks. 2011;59(1):85-8.
Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits. Pulmonary fibrosis may also accompany with the disease. A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness which was more prominent in the basal segments of lower lobes. Although pirfenidone therapy was planned, clinical deteroriation developed and patient died because of respiratory failure. In conclusion; this report describes a patient with pulmonary fibrosis caused by lung involvement of Hermansky-Pudlak syndrome which is an extremely rare and mortal disease.
Hermansky-Pudlak综合征是一种罕见疾病，其特征为出血素质、眼皮肤白化病和溶酶体类蜡样脂褐质色素沉积。该疾病还可能伴有肺纤维化。一名48岁男性患者，诊断为Hermansky-Pudlak综合征，因呼吸困难入院。胸部计算机断层扫描显示双侧弥漫性小叶间隔增厚，在下叶基底段更为明显。尽管计划使用吡非尼酮治疗，但临床病情仍恶化，患者因呼吸衰竭死亡。总之，本报告描述了一名因Hermansky-Pudlak综合征肺部受累导致肺纤维化的患者，这是一种极其罕见且致命的疾病。
