Ryan M, Will A M, Testa N, Hayworth C, Darbyshire P J
Children's Hospital, Birmingham.
Br J Haematol. 1995 Sep;91(1):43-5. doi: 10.1111/j.1365-2141.1995.tb05242.x.
Severe congenital neutropenia (SCN) is an inherited disorder characterized by severe neutropenia and recurrent infections from an early age, with bone marrow showing a maturational arrest of granulopoiesis at the promyelocyte stage. Since the introduction of G-CSF therapy the prognosis for affected children has improved dramatically. We describe two patients with SCN who were clinically unresponsive to G-CSF therapy. The results of in-vitro colony assays from these two patients are presented together with the results from the mother of one of these patients who also has a chronic neutropenia, and a further child with SCN who responded to treatment with G-CSF.
严重先天性中性粒细胞减少症（SCN）是一种遗传性疾病，其特征为严重中性粒细胞减少以及自幼反复感染，骨髓显示粒细胞生成在早幼粒细胞阶段出现成熟停滞。自引入粒细胞集落刺激因子（G-CSF）治疗以来，患病儿童的预后有了显著改善。我们描述了两名对G-CSF治疗无临床反应的SCN患者。呈现了这两名患者的体外集落试验结果，以及其中一名患者患有慢性中性粒细胞减少症的母亲和另一名对G-CSF治疗有反应的SCN患儿的结果。
