【摘要】 目的 观察急性淋巴细胞白血病（ALL）患儿血清铁蛋白（SF）及β2-微球蛋白（β2-MG）水平变化，探讨SF和β2-MG水平变化对ALL患儿临床治疗效果的应用价值。 方法 对2008年7月-2010年4月期间血液病区住院确诊为ALL的患儿53例，病情得到控制缓解后的ALL患儿28例，分别抽取空腹静脉血进行SF和β2-MG测定，并选取正常健康儿童30例作为对照组。 结果 ALL患儿治疗前血清SF和β2-MG水平均高于正常对照组（Plt;0.01），经治疗缓解后ALL患儿的SF和β2-MG水平显著降低，并随着病情的转归而逐渐恢复至正常水平；与治疗前比较，差异有统计学意义（Plt;0.01）。 结论 SF和β2-MG可作为ALL临床治疗效果的有效监测指标。【Abstract】 Objective To observe the dynamic changes of Serum Ferritin(SF) and β2-MG levels in children with acute lymphoblastic leukemia(ALL) and to investigate its clinical significance on clinical curative effect. Methods Fifty-three in-patients with ALL, 28 relieved patients from July 2008 to April 2010 in our Hematology and 30 normal as control were selected in our study. The venousblood of patients and controls were extract in order to detect SF and β2-MG. Results Before the treatment, the level of SF and β2-MG in ALL group were significantly higher than those in the control group (Plt;0.01). After the treatment, the level of SF and β2-MG in ALL group decreased significantly (Plt;0.01), and they return to normal level gradually with the outcome; compared with before the treatment, the differences were statistically significant(Plt;0.01). Conclusion SF and β2-MG can be used as a helpful indicator to evaluate the therapeutic effect of ALL.
Objective To summarize and analyze the clinical data of maple syrup urine disease (MSUD) patients to explore the correlation among clinical phenotype, biochemical markers and genotype. Methods The clinical data of 11 children with MSUD who were admitted to Guangzhou Women and Children’s Medical Center of Guangzhou Medical University between January 2011 and October 2016 were retrospectively collected. According to the clinical symptoms and prognosis, they were divided into classic type group (n=6) and intermediate/thiamine-effective group (n=5). The differences in biochemical metabolic markers between the two groups were compared, and the correlation between genotype and phenotype was analyzed. Results Compared to the intermediate/thiamine-effective group, the blood gamma-glutamyltransferase (γ-GT) level in the classic type group was significantly higher [158.00 (122.80, 309.30) vs. 11.00 (10.50, 14.00) U/L, P=0.004], and the globulin [(15.55±3.45) vs. (24.26±4.37) g/L, P=0.018] and lactate [1.05 (0.98, 1.68) vs. 2.10 (1.75, 2.70) mmol/L, P=0.030] levels in the classic type group were significantly lower, while the levels of alanine aminotransferase, aspartate aminotransferase and total bile acid were not different between the two groups (P>0.05). The plasma concentrations of leucine in the classic type group were higher than that in the intermediate/thiamine-effective group [(3748.20 (3135.00, 4936.00) vs. 620.40 (531.20, 1150.00) μmol/L, P=0.004]. The γ-GT level was positively correlated with the leucine level (rs=0.826, P=0.003), the leucine level was positively correlated with the iso-leucine level (rs=0.827, P=0.003), and the iso-leucine level was positively correlated with the valine level (rs=0.636, P=0.040). The results of gene sequencing showed that the 11 patients carried BCKDHA (n=4) and BCKDHB (n=7) gene mutations, respectively. Of these, 6 patients with BCKDHB gene mutations were classic type. Conclusion The prognosis of MSUD is closely correlated to blood γ-GT and branched-chain amino acids levels, as well as with genotype.