Department of Medicine, Columbia University Medical Center, New York, NY, USA.
Pediatrics. 2013 Jul;132(1):153-60. doi: 10.1542/peds.2012-4003. Epub 2013 Jun 10.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predisposed to interstitial lung disease. In addition, some patients with HPS develop granulomatous colitis. Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated with this syndrome.
Hermansky-Pudlak 综合征（HPS）是一种罕见的常染色体隐性遗传病，具有遗传异质性；有 9 种已知亚型。HPS 的特征是眼皮肤白化病、血小板储存池缺陷和由此导致的出血倾向，以及溶酶体中类脂褐素的积累。HPS 患者，特别是具有 HPS-1、HPS-2 或 HPS-4 基因型的患者，易患间质性肺病。此外，一些 HPS 患者会发展为肉芽肿性结肠炎。为了提供最佳的医疗保健，需要深入了解与该综合征相关的独特健康风险和功能限制。
