有机酸尿症的血液系统损害临床分析_彭晓音

有机酸尿症的血液系统损害临床分析

彭晓音1　刘　嵘2　王立文1　李尔珍1　师晓东2　朱彦丽1　陈　倩1　王　昕1

首都儿科研究所附属儿童医院 1. 神经科，2. 血液科 (北京　100020)

摘要：　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B 12有效型，11例（61.1%）有血液系统异常；而12例维生素B 12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。

[临床儿科杂志,2013,31(5):421-424]

关键词：　有机酸尿症；　血液系统损害；　贫血

中图分类号：　R725 文献标志码：　A 文章编号：　1000-3606 (2013) 05-0421-04

Damage of blood system in patients with organic aciduria PENG Xiaoyin 1, LIU Rong 2, WANG Liwen 1, LI Erzhen 1, SHI Xiaodong 2, ZHU Yanli 1, CHEN Qian 1, WANG Xin 1 (1. Department of Neurology; 2. Department of Hematology, Capital Institute of Pediatrics, Beijing 100020, China)

Abstract: Objective To investigate the haematological abnormalities in organic aciduria. Methods The clinical fea-tures, 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. Eight (22.2%) of them were anemia (Hb<100 g/L); eight patients (22.2%) were observed with bicytopenia (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 differ -ence was observed between these two groups (P =0.003). Conclusions For patients with unexplained blood diseases or ineffec-tive treatment outcome, neurological signs need to be examined. Timely organic acid analysis in urine is also needed to avoid missed diagnosis. (J Clin Pediatr,2013,31(5):421-424)

Key words : organic aciduria; haematological abnormalities; anemia

doi:10.3969j.issn.1000-3606.2013.05.006

·论 著·

通信作者：王立文 电子信箱：wangliwen2@

有机酸是氨基酸、脂肪、糖中间代谢过程中所产生的羧基酸，由于其中某些酶的缺乏导致相应羧基酸及其代谢产物蓄积，形成有机酸尿症，又称有机酸血症。自1996年报道首例异戊酸尿症以来，关于此类疾病的报道逐渐增多。通过尿液气相色谱/质谱检测法（gas chromatography/mass spectrometry ，GC/MS ），我国高危儿中有机酸尿症检出率约为1.76%[1]，是儿童遗传代谢病中较为常见的病种。此类疾病症状多样，可累及多个系统。临床常见为智力运动发育迟滞、继发性癫

等。而近年来血液系统异常开始引起国外学者的关注。血液系统作为首发症状就诊易漏诊,未针对原发病的治疗也很难纠正血液系统异常。本研究回顾性分析我院2007年1月至2012年1月确诊的有机酸尿症合并血液系统损害患儿的临床资料。

1　对象与方法

1.1　研究对象

36例研究对象，来自我院2007年1月至2012年