Hazzan D, Seward S, Stock H, Zisman S, Gabriel K, Harpaz N, Bauer J J
Department of Surgery, Mount Sinai Hospital, New York, NY 10029, USA.
Colorectal Dis. 2006 Sep;8(7):539-43. doi: 10.1111/j.1463-1318.2006.01046.x.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessively inherited disorder consisting of the triad of oculocutaneous tyrosinase-positive albinism, prolonged bleeding time secondary to platelet storage pool defect and ceroid depositions within the reticuloendothelial system. Some patients also reportedly have gastrointestinal (GI) complications related to chronic granulomatous colitis, enterocolitis and extensive granulomatous perianal disease, the later previously unreported in the literature. These observations suggest that the GI complications of HPS are due to the development of classical Crohn's disease. The implications for disease pathogenesis and surgical management are discussed.
Hermansky-Pudlak综合征（HPS）是一种罕见的常染色体隐性遗传疾病，由眼皮肤酪氨酸酶阳性白化病、血小板储存池缺陷继发的出血时间延长以及网状内皮系统内的类蜡质沉积三联征组成。据报道，一些患者还患有与慢性肉芽肿性结肠炎、小肠结肠炎和广泛的肉芽肿性肛周疾病相关的胃肠道（GI）并发症，后者在文献中此前未被报道。这些观察结果表明，HPS的胃肠道并发症是由典型克罗恩病的发展引起的。本文讨论了其对疾病发病机制和手术治疗的影响。
