Riley Roger, Khan Asad, Pai Shella, Warmke Laura, Winkler Marcus, Gunning William
Departments of Pathology, Virginia Commonwealth University (VCU) School of Medicine, Richmond.
Departments of Pediatrics, Virginia Commonwealth University (VCU) School of Medicine, Richmond.
Lab Med. 2019 Oct 10;50(4):406-420. doi: 10.1093/labmed/lmz013.
Storage pool deficiency (SPD) is a group of rare platelet disorders that result from deficiencies in α-granules, δ-granules, or both. One type of α-SPD is gray platelet syndrome (GPS), caused by mutations in the neurobeachin-like 2 (NBEAL2) gene that results in a bleeding diathesis, thrombocytopenia, splenomegaly, and progressive myelofibrosis. Due to the lack of α-granules, platelets have a gray and degranulated appearance by light microscopy. However, definitive diagnosis of GPS requires confirmation of α-granule deficiency by electron microscopy. Treatment is nonspecific, with the conservative utilization of platelet transfusions being the most important form of therapy. We present a case of a 17-year-old female with a past medical history of thrombocytopenia, first identified at the age of five. Her clinical symptomatology included chronic fatigue, gingival bleeding, bruising, menorrhagia, and leg pain. This report will discuss both the clinical and the pathophysiologic aspects of this rare platelet disorder.
贮存池缺陷（SPD）是一组罕见的血小板疾病，由α颗粒、δ颗粒或两者缺乏所致。一种α-SPD类型是灰色血小板综合征（GPS），由神经beachin样2（NBEAL2）基因突变引起，导致出血素质、血小板减少、脾肿大和进行性骨髓纤维化。由于缺乏α颗粒，血小板在光学显微镜下呈灰色且脱颗粒外观。然而，GPS的确诊需要通过电子显微镜证实α颗粒缺乏。治疗是非特异性的，保守使用血小板输注是最重要的治疗形式。我们报告一例17岁女性，既往有血小板减少病史，5岁时首次确诊。她的临床症状包括慢性疲劳、牙龈出血、瘀斑、月经过多和腿痛。本报告将讨论这种罕见血小板疾病的临床和病理生理方面。
