Zeidler C, Schwinzer B, Welte K
Kinderklinik, Medizinische Hochschule Hannover.
Klin Padiatr. 2000 Jul-Aug;212(4):145-52. doi: 10.1055/s-2000-9668.
Severe congenital neutropenia (CN; Kostmann syndrome) is a hematologic disorder characterized by a maturation arrest of myelopoiesis at the promyelocyte/myelocyte stage of development. This arrest results in severe neutropenia with absolute neutrophil counts (ANC) less than 0.2 x 10(9)/l associated with severe systemic bacterial infections from early infancy. Data on over 300 patients with CN collected by the Severe Chronic Neutropenia International Registry (SCNIR) since 1994 indicate that > 90% of these patients respond to recombinant human granulocyte-colony stimulating factor (rHuG-CSF) treatment with an ANC > 1.0 x 10(9)/l. In these patients rHuG-CSF is required daily as subcutaneous injection with individual doses ranging between 0.27 and 120 mcg/kg/day to maintain ANC above 1.0 x 10(9)/l. Adverse events documented in this group of patients include splenomegaly, thrombocytopenia, osteoporosis and malignant transformation into MDS/leukemia. If and how rHuG-CSF treatment impacts on these adverse events remains unclear since there are no historical controls for comparison. For those patients who are refractory to rHuG-CSF treatment and continue to have severe and often life-threatening bacterial infections, hematopoietic stem cell transplantation (HSCT) is still the only currently available treatment.
严重先天性中性粒细胞减少症（CN；科斯特曼综合征）是一种血液系统疾病，其特征是骨髓生成在早幼粒细胞/中幼粒细胞发育阶段成熟停滞。这种停滞导致严重的中性粒细胞减少症，绝对中性粒细胞计数（ANC）低于0.2×10⁹/L，并伴有从婴儿早期开始的严重全身性细菌感染。自1994年以来，严重慢性中性粒细胞减少症国际登记处（SCNIR）收集的300多名CN患者的数据表明，这些患者中>90%对重组人粒细胞集落刺激因子（rHuG-CSF）治疗有反应，ANC>1.0×10⁹/L。在这些患者中，rHuG-CSF需要每天皮下注射，个体剂量范围为0.27至120 mcg/kg/天，以维持ANC高于1.0×10⁹/L。该组患者记录的不良事件包括脾肿大、血小板减少、骨质疏松以及恶变为骨髓增生异常综合征/白血病。由于没有历史对照进行比较，rHuG-CSF治疗对这些不良事件的影响以及如何影响仍不清楚。对于那些对rHuG-CSF治疗难治且继续有严重且常危及生命的细菌感染的患者，造血干细胞移植（HSCT）仍然是目前唯一可用的治疗方法。
