Hermansky-Pudlak综合征的临床表现、诊断与治疗  

Clinical Manifestation,Diagnosis and Treatment of Hermansky-Pudlak Syndrome

作　　者：李洪义[1] 屈艳霞[1] 郑辉[2] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广东省广州市510080 [2]暨南大学医学院生理学教研室

出　　处：《中国全科医学》2007年第2期165-167,共3页Chinese General Practice

基　　金：广东省自然科学基金(04009328);广东省医学科研基金(A2005345)

摘　　要：Hermansky-Pudlak综合征(HPS)是白化病综合征中的一种,临床上以眼皮肤白化病症状、出血倾向和组织内蜡样脂质聚积三联症为主要特征。肺纤维化、肉芽肿性结肠炎、肾衰竭及心肌病为其致命性并发症。在人类,已经确定8种HPS亚型,各亚型在临床表现上存在一定差异。目前主要是通过分子分析法检测HPS基因突变来确诊HPS及其亚型。HPS尚缺乏特效疗法,一般仅限于支持治疗。Hermansky -Pudlak syndrome （HPS） is one of the albinism syndrome. The clinical manifestation is characterized by the classic triad of culocutaneous albinism （ OCA）, bleeding tendency, and lysosomal accumulation of ceroid - like material. Pulmonary fibrosis, granulomatous colitis, renel failure and cardiomyopathy are fatal complications of this syndrome. Eight genetically distinct subtypes of HPS are known in humans. Different HPS subtypes have additional distinguishing features. Confirmation of the diagnosis and its subtype is done by molecular analysis demonstrating mutation of an HPS gene. There is no specific therapy for HPS, and treatment is usually limited to supportive care.

关 键 词：Hermansky—Pudlak综合征 白化病 临床表现 诊断 

分 类 号：R596.2[医药卫生—内科学]