Dowton S B, Beardsley D, Jamison D, Blattner S, Li F P
Blood. 1985 Mar;65(3):557-63.
At least 22 members of a large kindred have a bleeding tendency resulting from an autosomal dominant disorder of platelet production and function. Phenotypic manifestations include mild to moderate thrombocytopenia, bleeding time prolongation, and abnormal platelet aggregation. Platelet survival time is normal. The platelet disorder in this family appears to differ from known hereditary thrombocytopenic or thrombocytopathic syndromes and may represent a new genetic disease. Six family members reportedly developed hematologic neoplasms: acute monocytic leukemia nine years after treatment for congenital neuroblastoma; lymphosarcoma at age 10 years; myeloid leukemia at age 23 years; acute myelocytic leukemia at age 62 years; leukemia of unknown type at age 48 years; and lymphocytic lymphoma at age 52 years.
一个大家族中至少22名成员因常染色体显性遗传性血小板生成和功能障碍而有出血倾向。表型表现包括轻度至中度血小板减少、出血时间延长和血小板聚集异常。血小板存活时间正常。这个家族中的血小板疾病似乎与已知的遗传性血小板减少症或血小板病综合征不同,可能代表一种新的遗传病。据报道,有6名家族成员患血液系统肿瘤:1名在先天性神经母细胞瘤治疗9年后患急性单核细胞白血病;1名10岁时患淋巴肉瘤;1名23岁时患髓系白血病;1名62岁时患急性髓细胞白血病;1名48岁时患类型不明的白血病;1名52岁时患淋巴细胞淋巴瘤。