Hermansky-Pudlak综合征研究进展

Advances in Hermansky-Pudlak Syndrome

Hermansky-Pudlak综合征(Hermansky-Pudlak syndrome,HPS)是一种综合征型白化病,多呈常染色体隐性遗传,具有典型的遗传异质性,主要表现眼或眼皮肤白化症状、出血倾向以及由溶酶体相关细胞器功能缺陷引起的其他症候群。本文对HPS的发病率、基因变异种类、表型、发生机制以及基因型与表型之间的关系等进行综述。

Hermansky-Pudlak syndrome,is an autosomal recessive and genetically heterogeneous disorder characterized by hypopigmentation,bleeding diathesis,and other symptoms due to multiple defects in lysosome-related organelles.Here we review the morbidity of HPS,the genetic variations and phenotypes,the mechanisms and the relationship between genotype and phenotype in HPS.