title: DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy.
abstract: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet storage pool deficiency, and ceroid lipofuscin deposition. Sequelae including pulmonary fibrosis, colitis, and hemorrhagic diathesis can impact obstetric management. An 18-year-old primigravida with OCA was diagnosed during pregnancy with Hermansky-Pudlak syndrome by DNA analysis. Uneventful vaginal delivery occurred at term following prophylactic platelet transfusion. Women of northwestern Puerto Rican descent with OCA should be offered testing for HPS. Identification of affected individuals may permit optimal obstetric management.
authors: Department of Obstetrics and Gynecology, Hartford Hospital, Connecticut, USA.
authors: J R
authors: JR
authors: Wax
authors: S
authors: S
authors: Rosengren
authors: E
authors: E
authors: Spector
authors: A J
authors: AJ
authors: Gainey
authors: C J
authors: CJ
authors: Ingardia
mesh_terms: D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000208:ethnology / Q000235:genetics / Q000628:therapy*; D006630:Hispanic or Latino; D006801:Humans; D008565:Membrane Proteins; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis* / Q000208:ethnology; D011647:Puerto Rico / Q000208:ethnology
chemical_list: C102160:HPS1 protein, human; D008565:Membrane Proteins