Gupta Abhishek, Utpat Ketaki, Desai Unnati, Joshi Jyotsna M
Department of Pulmonary Medicine, T. N. Medical College, B. Y. L. Nair Hospital, Mumbai, Maharashtra, India.
Lung India. 2019 Jul-Aug;36(4):345-348. doi: 10.4103/lungindia.lungindia_258_18.
Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction. The most grave complication of disease is interstitial lung disease (ILD) leading to irrevocable pulmonary fibrosis. Patients with HPS-1, HPS-2, and HPS-4 variants have a penchant to develop pulmonary fibrosis. The pulmonary involvement is characterised by progressive dyspnea hypoxemia respiratory failure and corpulmonale. The disease has an unfortunate prognosis with a high mortality rate and a poor quality of life. The options currently available in the therapeutic armamentarium are dismal with a dire need for opportune research. We hereby narrate an intriguing case scenario of a pair of siblings affected with this rare disorder with its associated ILD.
赫尔曼斯基-普德拉克综合征（HPS）是一种极为罕见的常染色体隐性疾病，其特征为酪氨酸酶阳性的眼皮肤白化病（Ty-pos OCA）、出血倾向以及与溶酶体功能障碍相关的全身并发症。该疾病最严重的并发症是间质性肺病（ILD），可导致不可逆转的肺纤维化。患有HPS-1、HPS-2和HPS-4变异型的患者易发生肺纤维化。肺部受累的特征为进行性呼吸困难、低氧血症、呼吸衰竭和肺心病。该疾病预后不佳，死亡率高，生活质量差。目前治疗手段有限，迫切需要及时开展研究。在此，我们讲述一对患有这种罕见疾病及其相关ILD的兄弟姐妹的有趣病例。
