孕期赫尔曼斯基-普德拉克综合征：两例病例研究

Hermansky-Pudlak syndrome in pregnancy: two case studies.

作者信息

Reiss R E, Copel J A, Roberts N S, Hobbins J C

出版信息

Am J Obstet Gynecol. 1985 Nov 1;153(5):564-5. doi: 10.1016/0002-9378(85)90475-2.

Abstract

Pregnancies in two patients with Hermansky-Pudlak syndrome, oculocutaneous albinism with hemorrhagic diathesis, are presented. Outcomes were good despite prior reports of postpartum hemorrhage in patients with this syndrome. This autosomal recessive disease is relatively common in parts of Puerto Rico. Suspected patients should be screened with platelet aggregation studies.

摘要

本文介绍了两名患有Hermansky-Pudlak综合征（一种伴有出血素质的眼皮肤白化病）患者的妊娠情况。尽管此前有关于该综合征患者产后出血的报道，但此次妊娠结局良好。这种常染色体隐性疾病在波多黎各部分地区相对常见。疑似患者应通过血小板聚集研究进行筛查。