目的 探讨有机酸尿症中血液系统损害的临床特点.方法回顾性分析36 例有机酸尿症患儿的临床特点、实验室检查结果及血液系统异常情况.结果 36 例患儿中出现血液系统异常19 例(52.8%),其中贫血(Hb<100 g/L)8 例(22.2%),血常规提示两系(贫血、中性粒细胞缺乏)减少8 例(22.2%),三系减少2 例(5.6%),单纯血小板减少1 例(2.8%).血液系统损害可先于、同时或晚于神经系统受累.36 例患儿中甲基丙二酸尿症31 例,其中19 例为维生素B12 有效型,11 例(61.1%)有血液系统异常;而12 例维生素B12 无效型中仅1 例(7.7%)有血液系统异常,两者差异有统计学意义(P=0.003).结论对于不明原因或治疗效果不好的血液系统疾病患儿要注意神经系统体征检查,及时完善尿有机酸分析,避免漏诊.%Objective To investigate the haematological abnormalities in organic aciduria. Methods The clinical features, laboratory investigation and hematological abnormalities from 36 children with organic aciduria were retrospectively analyzed. Results Nineteen (52.8%) of the 36 patients had haematological abnormalities. Bight (22.2%) of them were anemia (Hb<100 g/L); eight patients (22.2%) were observed with bieytopenia (anemia, neutropenia); while 2 (5.6%) with pancytope-nia; and 1 (2.8%) with thrombocytopenia. Haematological abnormalities may occur prior to, at the same time or later than the involvement of the nervous system. Thirty-one of 36 patients were diagnosed as methylmalonic aciduria (MMA). Nineteen of MMA patients showed vitamin 12 response, eleven (61.1%) of them were with hematological abnormalities. Twelve of MMA patients were not vitamin 12 responsive and only one (7.7%) of them showed hematological abnormalities. Significant difference was observed between these two groups (P=0.003). Conclusions For patients with, unexplained blood diseases or ineffective treatment outcome, neurological signs need to be examined. Timely organic acid analysis in urine is also needed to avoid missed diagnosis.
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