赫尔曼斯基-普德拉克综合征

The Hermansky-Pudlak syndrome.

作者信息

Brandt A, Offner F, Quatacker J, Phillipe J, Meire F

机构信息

Department of Ophthalmology, University Hospital Ghent, Belgium.

出版信息

Bull Soc Belge Ophtalmol. 1997;267:99-105.

PMID:9745819

Abstract

The Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism with a haemorrhagic diathesis and the accumulation of ceroid-like material in different tissues. HPS is not an uncommon type of albinism as it was diagnosed in 13.5% (8/59) of our autosomal recessive albinos. These eight patients were evaluated ophthalmologically and haematologically. Apart from the symptoms caused by the albinism, accompanying signs vary from ecchymoses to life threatening haemorrhages and death by associated restrictive lung disease. Recognition of this syndrome by the ophthalmologist can be of major importance in this serious and eventually fatal disorder.

摘要

赫尔曼斯基-普德拉克综合征（HPS）将眼皮肤白化病与出血素质以及类蜡样物质在不同组织中的蓄积联系在一起。HPS并非罕见的白化病类型，在我们诊断的常染色体隐性白化病患者中，有13.5%（8/59）被诊断为此病。对这8例患者进行了眼科和血液学评估。除了白化病引起的症状外，伴随症状从瘀斑到危及生命的出血，以及因相关的限制性肺病导致的死亡不等。在这种严重且最终可能致命的疾病中，眼科医生识别该综合征可能至关重要。