赫尔曼斯基-普德拉克综合征
Hermansky-Pudlak Syndrome.
作者信息
El-Chemaly Souheil, Young Lisa R
机构信息
Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
Division of Pulmonary Medicine, Department of Pediatrics, Vanderbilt University School of Medicine, 2200 Children's Way, Doctor's Office Tower 11215, Nashville, TN 37232, USA; Division of Allergy, Pulmonary, and Critical Care, Department of Medicine, Vanderbilt University School of Medicine, 1161 21st Avenue South, B-1220 Medical Center North, Nashville, TN 37232, USA.
出版信息
Clin Chest Med. 2016 Sep;37(3):505-11. doi: 10.1016/j.ccm.2016.04.012. Epub 2016 Jun 30.
Abstract
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows many of the clinical, radiologic, and histologic features found in idiopathic pulmonary fibrosis, but occurs at a younger age. Despite knowledge of the underlying genetic defects, there are currently no definitive therapeutic or preventive approaches for HPS pulmonary fibrosis other than lung transplant.
摘要
Hermansky-Pudlak综合征（HPS）是一种常染色体隐性疾病，与眼皮肤白化病、出血素质、肉芽肿性结肠炎相关，在某些亚型（包括HPS-1、HPS-2和HPS-4）中还伴有高发性肺纤维化。HPS相关性肺纤维化具有许多特发性肺纤维化的临床、放射学及组织学特征，但发病年龄较轻。尽管已经了解其潜在的基因缺陷，但目前除了肺移植外，尚无针对HPS相关性肺纤维化的确切治疗或预防方法。
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