【摘要】 目的 觀察急性淋巴細胞白血病（ALL）患兒血清鐵蛋白（SF）及β2-微球蛋白（β2-MG）水平變化，探討SF和β2-MG水平變化對ALL患兒臨床治療效果的應用價值。 方法 對2008年7月-2010年4月期間血液病區住院確診為ALL的患兒53例，病情得到控制緩解后的ALL患兒28例，分別抽取空腹靜脈血進行SF和β2-MG測定，并選取正常健康兒童30例作為對照組。 結果 ALL患兒治療前血清SF和β2-MG水平均高于正常對照組（Plt;0.01），經治療緩解后ALL患兒的SF和β2-MG水平顯著降低，并隨著病情的轉歸而逐漸恢復至正常水平；與治療前比較，差異有統計學意義（Plt;0.01）。 結論 SF和β2-MG可作為ALL臨床治療效果的有效監測指標。【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.