血清可溶性转铁蛋白受体对缺铁性贫血的诊断价值

目的探讨血清可溶性转铁蛋白受体(sTfR)对儿童缺铁性贫血(IDA)的诊断价值。方法小细胞低色素性贫血患儿63例根据临床诊断标准分为IDA和非缺铁性贫血(n-IDA)组,测定sTfR及血清铁蛋白(SF)、血清铁(SI)等铁代谢指标,并分别行t检验和ROC曲线分析。结果IDA组sTfR均值高于正常值,与n-IDA组比较具有极显著差异(P<0.001),而IDA组SF和SI均值在正常参考值范围;尽管SF与SI特异度较高,但其敏感度和ROC曲线下面积明显较sTfR低。结论血清sTfR可较准确反映铁贮存状况,是诊断IDA的有效客观指标,在儿童铁缺乏疾病的鉴别诊断中具有重要价值。     

血清转铁蛋白受体

血清转铁蛋白受体（。TfR）是近年来转铁蛋白受体（TfR）研究的一个新领域。自1986年KOgO等首次证实其存在以来,STfR在血液病临床实践中的意义日益受到重视,成为评价机体铁状况及红细胞生成的一项新指标。一、STfR的发现、来源及其特征TfR是细胞膜上的一种跨膜糖蛋白,主要功能是与转铁蛋白结合,从而将铁摄人细胞内。TfR广泛分布于机体所有细胞,在增殖活跃的细胞、合成Hb的幼红细胞及胎盘绒毛滋养层合体细胞膜上,TfR数目尤为丰富,以适应这些细胞对铁的需要。研究证明,正常情况下人体总铁量的4／5都供幼红细胞合成Hb,且经Tf…     

血清转铁蛋白受体和促红细胞生成素与急性白血病患儿贫血关系的研究

血清转铁蛋白受体 (ｓＴｆＲ)是细胞转铁蛋白受体 (ＴｆＲ)的一个可溶性片段 ,在一定程度上可反映细胞ＴｆＲ的数量。已有研究表明 ,ＴｆＲ在红系细胞、高度增殖细胞 (包括肿瘤细胞 )和低分化细胞表达较高[1,2 ] 。血清促红细胞生成素(ｓＥＰＯ)可以反映体内ＥＰＯ的生成能力 ,受骨髓造血前体细胞总量的影响。二者均与红细胞生成密切相关。贫血是小儿白血病的主要临床表现之一 ,目前有关白细胞贫血的机制尚未完全被阐明。 2 0 0 0年 9月～ 2 0 0 1年 7月 ,我们探讨了急性白血病 (ＡＬ)患儿ｓＴｆＲ和ｓＥＰＯ与白血病贫血的关系 ,报道如下。…     

可溶性转铁蛋白受体在儿童铁缺乏症诊断中的价值

目的：调查6个月至7岁各年龄段儿童铁缺乏症的发生率;评价可溶性转铁蛋白受体（sTfR）在儿童铁缺乏症筛查中的应用价值。方法：采用诊断性试验方法,检测浙江省杭州市502例来我院体检的6个月至7岁儿童血清sTfR、铁蛋白(SF)、血清铁(SI)、总铁结合力（TIBC）以及C反应蛋白（CRP）水平,同时检测血常规和血锌原卟啉（ZPP）。结果：铁缺乏症的检出率为19.5%（98/502）,其中婴儿组（≤1岁）检出率为34.7%,幼儿组（大于1岁、小于或等于3岁）19.4%,学龄前组（大于3岁、小于或等于7岁）14.0%。婴儿组铁缺乏的检出率明显高于其他两个年龄组。婴儿组sTfR均值（2.02±0.73 mg/L）明显高于幼儿组（1.68±0.40 mg/L）和学龄前组（1.67±0.29 mg/L）,差异有统计学意义（P<0.05）。sTfR诊断铁缺乏的界值在婴儿组为2.02 mg/L（灵敏度70.3%,特异度 82.2%）,幼儿组为1.85 mg/L(灵敏度71.7%,特异度86.4%),学龄前组为1.85 mg/L（灵敏度77.8%, 特异度88.6%)。sTfR与SF、TIBC、TS、ZPP及MCV具有相关性（r分别为0.107、0.276、-0.139、0.175、-0.140,P均<0.05）。结论：7岁以下儿童中,婴儿组是铁缺乏发生率最高的;婴儿组sTfR均值及其诊断铁缺乏的界值均高于其他年龄组;sTfR是诊断儿童尤其是婴儿铁缺乏症的一个较敏感指标。     

血红蛋白H病的发病机理与临床

从基因水平对血红蛋白H病进行研究,收获颇丰,成为当今分子生物学科内非常活跃的领域之一。该症起因于α珠蛋白结构基因缺失或功能障碍,导致α珠蛋白合成严重不足,使正常人HbA合成减少,相对过量的β链积聚形成β四聚体——HbH(β_4),终致溶血性贫血。本文着重介绍了本症的发病机理和诊断技术的进展。     

缺铁小儿血清转铁蛋白受体变化及其意义

为探讨血清中可溶性转铁蛋白受体（sTfR）在缺铁性贫血诊断中的意义，用单克隆及多克隆双抗体夹心ELISA法测定正常对照组、隐性缺铁组、红细胞生成缺铁组、轻度缺铁性贫血组、中～重度缺铁性贫血组小儿sTfR。结果分别为4．0±1．1、5．3±1.1、7.2±1.2、94±2.6、14.9±5.3mg／L，各组均数比较及两两比较均有显著性差异。分析sTfR及血清铁蛋白（SF）在各组间的动态变化，发现对照组与隐性缺铁组间SF差值最大，sTfR变化则远不及SF；随着缺铁继续加重，SF保持低水平上的相对恒定；sTfR则迅速升高。此结果提示SF是诊断隐性缺铁最敏感的指标，sTfR则为诊断红细胞生成缺铁及缺铁性贫血的可靠指标，并可量度贮存铁耗竭后继续铁缺失的严重程度。     

血锌原卟啉和血清转铁蛋白受体测定对合并感染的缺铁性贫血患儿的诊断价值

目的　研究血锌原卟啉 (ZPP)和血清转铁蛋白受体 (sTfR)测定在合并感染的缺铁性贫血患儿中的诊断价值。方法　 1999～ 2 0 0 2年华中科技大学同济医学院附属同济医院采用血液荧光测定仪测定ZPP ,酶联免疫吸附试验法测定血清转铁蛋白受体 ,检测了 6 0例合并常见感染性疾病的缺铁性贫血 (IDA)患儿 ,设为感染合并IDA组 ,Hb( 70 4± 2 1 7)g/L。同时检测了 2 0例患同类感染性疾病的血红蛋白正常患儿 ,设为对照组 ,Hb( 12 3 1± 10 2 ) g/L。结果　ZPP :对照组为 ( 0 5 4± 0 18) μmol/L ,而感染合并IDA组为 ( 2 5 5± 1 72 ) μmol/L ,明显高于对照组 ( t=8 71,P <0 0 0 1)。血清转铁蛋白受体 :对照组为 ( 7 0 9± 2 32 )mg/L ,感染合并IDA组为 ( 2 4 4 0± 17 84 )mg/L ,亦显著高于对照组 (t =7 33,P <0 0 0 1)。结论　两种诊断IDA的新指标ZPP和sTfR受感染因素的影响较小 ,在合并常见感染性疾病的IDA患儿中 ,仍可作为诊断铁缺乏的良好指标     

广西地区595例HbH病患儿基因型与临床检验特点分析

目的 探讨广西地区HbH 病患儿的基因类型及其临床特点。方法 采用单管多重PCR 结合琼脂糖凝胶电泳和反向斑点杂交确定595 例患儿地贫基因型,并分析不同基因型的贫血程度。结果 595 例HbH 病患儿中包括--SEA/-α3.7 232 例,--SEA/αCSα 174 例,--SEA/-α4.2 122 例,--SEA/αWSα 35例,--SEA/αQSα 24 例,检出罕见泰国缺失型复合α 地贫-2 型HbH 病8 例,其中合并CD41-42、CD17-28、CD26、IVS-Ⅱ -654、IVS-Ⅰ -1和CD27-28 等轻型β地贫23 例。其中HbH-CS 患儿贫血程度最重,HbH-WS 最轻,均为小细胞低色素贫血。结论 广西地区HbH 病患儿基因型以缺失型为主,有一定的轻型β 地贫合并率,非缺失型HbH 病患儿多较缺失型贫血重。     

Erythropoietic activity and soluble transferrin receptor level in neonates and maternal blood

Serum transferrin receptor (sTfR) concentration reflects functional iron status and erythropoietic activity. The aims of this study were to examine gender differences of erythropoiesis in newborns and to evaluate the influences of maternal anaemia or iron deficiency on foetal cord blood parameters for iron status and sTfR. In total, 527 newborns and their mothers were examined. Reticulocytes were analysed by flow cytometry and sTfR was measured by an immunoenzymometric method. There were no sex differences in haematological or iron parameters. However, the reticulocyte maturity index (RMI) of male neonates was 37.45%, significantly higher than the 26.81% in female neonates (p <0.01). The high fluorescence reticulocytes (HFR) and middle fluorescence reticulocytes (MFR) of male neonates were 4.91% and 22.36%, respectively, while those of female neonates were 3.31% and 17.83%, respectively (p < 0.01 for each gender). The sTfR concentrations of male and female neonates were 6.27 mg/l and 5.09 mg/l, respectively (p < 0.01). Values for serum iron, ferritin and reticulocyte subpopulations were significantly lower in the newborns of anaemic mothers. However, newborns of iron-deficient mothers showed no differences in iron parameters from those of non-iron-deficient mothers. CONCLUSIONS: The higher values of RMI and sTfR observed in male neonates indicate that erythropoietic activity is higher in this group. Iron transport to the foetus appears to be independent of maternal iron deficiency. However, iron transport and erythropoiesis in newborns seems to decline from the time that the mothers acquire frank iron deficiency anaemia.     

Serum transferrin receptor in children and adolescents with inflammatory bowel disease

Iron studies are difficult to interpret in patients with chronic inflammatory states such as inflammatory bowel disease (IBD). Serum transferrin receptor (TfR) has been reported to be a reliable tool for the diagnosis of iron deficiency in adults. Our aim was to evaluate the role of serum TfR in diagnosing iron deficiency in children and adolescents with IBD. A total of 63 consecutive patients with IBD, aged 9 to 22 years (median 15 years), were tested for serum haemoglobin level, mean corpuscular volume (MCV), and serum iron, transferrin, ferritin and serum TfR levels. Those found to be anaemic were compared with seven age-matched subjects with iron deficiency anaemia (IDA) and 24 age-matched children without signs of anaemia or inflammation. Of the 63 patients with IBD, 26 had anaemia. Based on ferritin levels and MCV indices, anaemia was classified as IDA in 11 patients and as anaemia of chronic disease (ACD) in 15 patients. Mean serum TfR level in normal controls was 3.5 mg/l (range 1.2–8.2 mg/l). Mean (±SD) serum TfR levels were significantly lower in the IBD patients with ACD (5.3 ± 2.3 mg/l) than in the IBD patients with IDA (8.2 ± 3.1 mg/l) (P < 0.05). Serum TfR levels above 5 mg/l identified 10/11 IBD patients with IDA. The calculated TfR/ferritin ratio was 84 (range 17–367) for controls and 133 (range 6.4–1840) for IBD patients. A cut-off level of 350 (91% sensitivity, 100% specificity, 100% positive predictive value, 98% negative predictive value) was established for the diagnosis of IDA in IBD. Conclusion The results suggest that serum transferrin receptor is a useful parameter for the diagnosis of iron deficiency in inflammatory bowel disease, in particular, the transferrin receptor/ferritin ratio with a cut-off level ≥350. Received: 1 June 1999 / Accepted: 16 February 2000     

Serum soluble transferrin receptor is a valuable diagnostic tool in iron deficiency of breath-holding spells

Iron-deficiency anemia may be a factor contributing to breath-holding spells. The serum transferrin receptor provides a useful measure of tissue iron deficiency. In this study of 50 breath-holders, while iron-deficiency anemia was detected in 28 (56%) of patients with routine tests, serum transferrin receptor levels were found increased in all patients. A positive correlation was detected between serum soluble transferrin receptor levels and frequency of attacks. It is suggested that the serum transferrin receptor level is useful as a single test for identification of iron deficiency in breath-holders. Moreover, if iron deficiency can be diagnosed earlier, then patients can be treated earlier.     

急性白血病患儿血清转铁蛋白受体检测及意义

目的　探讨急性白血病患儿血清转铁蛋白受体 (sTfR)的变化及其临床意义。方法　采用双抗夹心酶联免疫吸附法测定sTfR。结果　急性淋巴细胞白血病 (ALL)初治组 (2 4例 ) 2 4 .73± 1 2 .38nmol/L ,急性髓性白血病 (AML)初治组 (1 1例 ) 2 7.0 9± 1 9.37nmol/L ,正常对照组 (2 0例 ) 30 .49± 9.78nmol/L。三者无显著差异 (P >0 .0 5) ;经 4周化疗ALL完全缓解组 (1 4例 )为 55 .41± 2 2 .0 1nmol/L ,AML(5例 )为 50 .71± 2 0 .99nmol/L ,显著高于初治组及正常组 (P <0 .0 1 ) ;第 8周末ALL(1 0例 )为 33 .0 7± 1 4 .2 7nmol/L ,AML(5例 )为30 .99± 1 2 .90nmol/L ,接近正常水平 (P >0 .0 5) ;ALL长期缓解组 (1 3例 )为 33 .0 7± 1 6 .1 1nmol/L ,与正常对照组无差异 (P >0 .0 5)。结论　sTfR在小儿急性白血病治疗前后有显著变化 ,对诊断及治疗效果的评价有一定参考意义。     

儿童抗N-甲基-D-天门冬氨酸受体脑炎免疫治疗进展

抗N-甲基-D-天门冬氨酸受体（NMDAR）脑炎是近年被报道的一种自身免疫性脑炎。目前国内外尚无针对该病的儿童及青少年患者的统一治疗方案,免疫治疗仍是主要的治疗措施,应用较为广泛的包括一线免疫治疗、二线免疫治疗及长程免疫治疗。近年来也有学者尝试应用新型免疫抑制剂或改进现有免疫治疗方案来提高对儿童及青少年患者的治疗效果,该文将尝试总结相关免疫治疗方案,并对免疫治疗研究方向做一展望。     

Marked increase in serum transferrin receptor among Thai children with Hb-E-beta-thalassaemia

OBJECTIVE: To determine the serum transferrin receptor (sTfR) level in patients with Hb-E-beta-thalassaemia attending a paediatric haematology clinic. METHODS: Sixty-four patients with Hb-E-beta-thalassaemia aged 2.9-10.8 years were attending a paediatric haematology clinic at King Chulalongkorn Memorial Hospital, Bangkok, Thailand. Circulating transferrin receptor was measured, as was the complete blood count and percentage of reticulocytes. A transfusion regimen recommended by the Thalassaemia International Federation was used whenever parents agreed to the treatment. RESULTS: In patients with Hb-E-beta-thalassaemia, the concentration of sTfR varied from 1.88 to 28.44 mg/L (mean +/- SD 13.99 +/- 5.37), while in the control group, it varied from 0.95 to 2.56 mg/L (mean +/- SD 1.58 +/- 0.41; n = 31). The sTfR level correlated inversely to a single measurement of haemoglobin in the same specimen (r = - 0.433; P = 0.00) and was elevated compared to the control group (P = 0.00; alpha < 0.05). In addition, the sTfR level correlated inversely to mean pre-transfusion haemoglobin (r = - 0.36; P = 0.003). CONCLUSIONS: The level of sTfR is elevated in children with Hb-E-beta-thalassaemia. The sTfR level can be used as an adjunct real-time assessment of erythropoietic activity, comparable with mean pre-transfusion haemoglobin. Measurement of sTfR is easy using most automated chemical analyzers, and material can be obtained from routine specimen collections. Further studies should be carried out in a larger population to verify the benefits of this test to patients.