Schallreuter K U
Universitäts-Hautklinik Hamburg.
Hautarzt. 1989 Mar;40(3):130-3.
Hermansky-Pudlak syndrome is a hereditary disease with an autosomal recessive mode of inheritance, characterized by the triad of tyrosinase-positive oculocutaneous albinism, a hemorrhagic diathesis resulting from storage pool-deficient platelets, and accumulation of ceroid/lipofuscin-like material in various cells and tissues and in the urine. The basic defect in this syndrome remains unknown. It is believed that the primary defect may involve membranes of the platelet-dense bodies and the melanosomes. Recently a defective calcium uptake system and low activities for membrane-associated thioredoxin reductase have been shown in Hermansky-Pudlak syndrome, and their possible role in the pathomechanism of this disorder is discussed.
Hermansky-Pudlak综合征是一种常染色体隐性遗传疾病，其特征为三联征：酪氨酸酶阳性的眼皮肤白化病、血小板贮存池缺陷导致的出血素质，以及类蜡样质/脂褐素样物质在各种细胞、组织及尿液中的蓄积。该综合征的根本缺陷尚不清楚。据信，原发性缺陷可能涉及血小板致密体和黑素小体的膜。最近，在Hermansky-Pudlak综合征中已发现钙摄取系统存在缺陷以及膜相关硫氧还蛋白还原酶活性较低，并对它们在该疾病发病机制中可能发挥的作用进行了讨论。
