Juneja H S, Elder F F, Gardner F H
Department of Internal Medicine, University of Texas Medical Branch, Galveston.
Eur J Haematol. 1987 Oct;39(4):306-10. doi: 10.1111/j.1600-0609.1987.tb00774.x.
Dyskeratosis congenita (DC) is a rare familial hematologic disorder that has various modes of inheritance. We have studied 2 siblings with DC. 1 sibling had thrombocytopenia, which responded to therapy with nandrolone decanoate and oxymetholone. Platelets were abnormally small, which indicates that a qualitatively abnormal megakaryocytopoiesis is a feature of DC. Myeloid and erythroid progenitors in specimens of the blood and bone marrow from both siblings were either absent or greatly reduced in numbers. The qualitatively abnormal megakaryocytopoiesis, and the quantitative abnormality of hematopoietic progenitor cells committed to myelopoiesis and erythropoiesis, indicates involvement of the pluripotent stem cell in DC. Cytogenetic studies of the bone marrow and peripheral blood lymphocytes from these patients showed normal karyotypes, a normal sister chromatid exchange frequency, and a rapid proliferation of peripheral T lymphocytes, a feature of the disorder that has not been reported previously.
先天性角化不良（DC）是一种罕见的家族性血液系统疾病，具有多种遗传方式。我们研究了2例患有DC的兄弟姐妹。其中1例有血小板减少症，对癸酸诺龙和羟甲烯龙治疗有反应。血小板异常小，这表明定性异常的巨核细胞生成是DC的一个特征。两例患者血液和骨髓标本中的髓系和红系祖细胞要么缺失，要么数量大幅减少。定性异常的巨核细胞生成以及致力于髓系和红系生成的造血祖细胞的定量异常表明多能干细胞参与了DC。对这些患者的骨髓和外周血淋巴细胞进行的细胞遗传学研究显示核型正常、姐妹染色单体交换频率正常以及外周T淋巴细胞快速增殖，这是该疾病的一个此前未被报道的特征。
