Blood. 2016 Apr 7;127(14):1731. doi: 10.1182/blood-2016-01-696435.
This landmark article by Frantisek Hermansky and Paulus Pudlak, clinicians in Prague, Czechoslovakia, is the first to describe 2 unrelated individuals with what is now called Hermansky-Pudlak syndrome, a bleeding disorder that occurs in association with oculocutaneous albinism. The definition of this syndrome resulted not only in improved care of these patients but also in a functional and molecular understanding of the disease and the role of dense granule secretion in platelet function. Hermansky-Pudlak syndrome is now known to be related to defective dense granule biogenesis due to mutations in any of ≥9 different genes.
这篇具有里程碑意义的文章由捷克斯洛伐克布拉格的临床医生 Frantisek Hermansky 和 Paulus Pudlak 撰写，首次描述了 2 名无关联个体的疾病，即现在所称的 Hermansky-Pudlak 综合征，这是一种伴发眼皮肤白化病的出血性疾病。该综合征的定义不仅改善了对这些患者的治疗，还增进了对该疾病及其致密颗粒分泌在血小板功能中的作用的功能和分子理解。现在已知 Hermansky-Pudlak 综合征与由于≥9 种不同基因突变导致致密颗粒生物发生缺陷有关。
