Smith O P, Reeves B R, Kempski H M, Evans J P
Department of Haematology and Oncology, Great Ormond Street Hospital for Children NHS Trust, London.
Br J Haematol. 1995 Sep;91(1):150-3. doi: 10.1111/j.1365-2141.1995.tb05260.x.
Monosomy 7 (Mo7) and leukaemia predisposition are associated with Kostmann's disease (KD). The recent introduction of long-term recombinant HuG-CSF treatment in patients with KD, whilst showing significant reductions in infectious complications and improved quality of life, might also be associated with an increased risk of developing karyotypic abnormalities, myelodysplasia (MDS) and acute myeloid leukaemia (AML). We describe a case of an identical twin with probable autosomal dominant KD who developed anaemia, Mo7/MDS and AML at 18, 30 and 50 months respectively from starting r-metHuG-CSF (filgrastim) treatment. Further patient analyses are required to establish the natural history of KD and to determine what role, if any, filgrastim plays in altering the pathobiology of this disorder.
单体7（Mo7）和白血病易感性与科斯特曼病（KD）相关。近期对KD患者采用长期重组人粒细胞集落刺激因子（HuG-CSF）治疗，虽显示感染并发症显著减少且生活质量改善，但也可能与核型异常、骨髓增生异常综合征（MDS）和急性髓系白血病（AML）发生风险增加有关。我们描述了一例同卵双胞胎病例，其可能患有常染色体显性KD，分别在开始使用重组甲硫氨酸人粒细胞集落刺激因子（r-metHuG-CSF，非格司亭）治疗后的18个月、30个月和50个月时出现贫血、Mo7/MDS和AML。需要进一步对患者进行分析，以明确KD的自然病程，并确定非格司亭在改变该疾病病理生物学过程中所起的作用（若有）。
