孕母间断补铁对预防婴儿缺铁性贫血的作用观察

[目的]观察孕母间断补铁预防新生儿及婴儿缺铁性贫血（iron deficiency anemia,IDA）的作用.[方法]对预防组109例孕妇从孕20周开始进行两周一次的间断补铁,每次补充元素铁105mg,共8次,对照组109例不补铁剂.实验前后对两组孕妇血以及脐血检测血红蛋白质（Hb）、血清铁蛋白（SF）、红细胞锌原卟啉（ZPP）等指标.对两组婴儿随访6～12月,评估婴儿IDA的患病情况.[结果]实验前两组孕妇间Hb、SF、ZPP差异无显著性（P＞0.05）;实验结束后对照组各项指标均低于预防组,差异有非常显著性（P＜0.01）;预防组新生儿脐血SF值和出生体重高于对照组（P＜0.05）;预防组婴儿6月龄时Hb均数高于对照组（P＜0.05）.[结论]孕期间断补铁可明显改善孕妇及胎儿或新生儿铁营养状况,有利于减少婴儿IDA的发生.     

范可尼贫血蛋白与急性髓系白血病

范可尼贫血(FA)是一种罕见的常染色体隐性遗传性疾病,表现为进行性骨髓衰竭、先天性骨骼畸形和易患癌症等.FA患者细胞染色体自发不稳定,并对DNA交联剂如丝裂霉素C(MMC)高度敏感.因FA常发展成急性髓系白血病(AML),被认为是白血病前状态.目前已发现11种FA基因,通过共同的机制在维持细胞基因组稳定性中发挥作用.FANCF蛋白作为一种灵活的衔接蛋自在FA蛋白复合物正确组装形成过程中发挥着重要作用,它的形成使FANCD2蛋白单一泛素化,泛素化FANCD2蛋白导向染色质与乳腺癌抑制蛋白(BRCA1)相瓦作用,修复DNA损伤.FA基因缺陷将导致基因组不稳、染色体断裂的发生率增高,经过遗传损伤的积累最终导致AML及骨髓增生异常综合征(MDS)的发生.     

环孢素联合丙种球蛋白和川芎嗪治疗小儿重型再生障碍性贫血

目的:观察环孢素(CsA)、静脉注射用丙种球蛋白(IVIG)、川芎嗪三者联合治疗重型再生障碍性贫血(SAA)的疗效.方法:观察环孢素联合IVIG和川芎嗪治疗12例SAA临床疗效及实验指标,并与CsA加IVIG治疗10例SAA对照组相比较.结果:CsA、IVIG、川芎嗪三者联用治疗SAA总有效率为83.3%,CsA加IVIG总有效率40%,两者比较有显著性差异(P＜0.05);血象、骨髓象与对照组相比较有统计学差异(P＜0.05);而细胞免疫功能与对照组相比无统计学差异(P＞0.05).结论:CsA、IVIG、川芎嗪三者联用治疗SAA有效、安全,是治疗SAA的有效方案之一.     

婴儿遗传性血栓性血小板减少性紫癜1例报告

目的探讨遗传性血栓性血小板减少性紫癜(TTP)的诊断及治疗。方法回顾分析1例遗传性TTP患儿的临床资料。结果女性患儿,出生后不久即出现黄疸、易激惹、贫血、血小板减少、蛋白尿,并反复发作。基因测序显示,ADAMTS 13基因外显子2个杂合突变,c. 3616 CT(胞嘧啶胸腺嘧啶)、c. 334 delG缺失突变,分别来自于父母,属于复合杂合突变,符合常染色体隐性遗传规律。明确诊断为血栓性微血管病中的遗传性TTP。患儿先后多次复发,经输注血浆治疗效果好。结论临床上典型或不典型溶血性贫血,同时伴血小板减少、肾损害等应警惕遗传性TTP,基因检测有助诊断。遗传性TTP可输注血浆治疗。     

Ferric citrate for the treatment of hyperphosphatemia and anemia in patients with chronic kidney disease: a meta-analysis of randomized clinical trials

BackgroundHyperphosphatemia and anemia, which are common complications of chronic kidney disease (CKD), can independently contribute to cardiovascular events. Several previous studies have found that the iron-based phosphate binder, ferric citrate (FC), could be beneficial to both hyperphosphatemia and anemia.MethodsRelevant literature from PUBMED, EMBASE, the Cochrane Central Register of Controlled Trials (CCRCT) and MEDLINE databases were searched up to 21 February 2022, in order to conduct a meta-analysis to investigate the efficacy, safety and economic benefits of ferric citrate treatment in CKD patients with hyperphosphatemia and anemia. The meta-analysis was conducted independently by two reviewers using the RevMan software (version 5.3).ResultsIn total, this study included 16 randomized clinical trials (RCT) involving 1754 participants. The meta-analysis showed that ferric citrate could significantly reduce the serum phosphorus in CKD patients compared to the placebo control groups (MD −1.76 mg/dL, 95% CI (−2.78, −0.75); p = 0.0007). In contrast, the difference between ferric citrate treatment and active controls, such as non-iron-based phosphate binders, sevelamer, calcium carbonate, lanthanum carbonate and sodium ferrous citrate, was not statistically significant (MD − 0.09 mg/dL, 95% CI (−0.35, 0.17); p = 0.51). However, ferric citrate could effectively improve hemoglobin levels when compared to the active drug (MD 0.43 g/dL, 95% CI (0.04, 0.82); p = 0.03) and placebo groups (MD 0.39 g/dL, 95% CI (0.04, 0.73); p = 0.03). According to eight studies, ferric citrate was found to be cost-effective treatment in comparison to control drugs. Most of the adverse events (AE) following ferric citrate treatment were mild at most.ConclusionCollectively, our review suggests that iron-based phosphate binder, ferric citrate is an effective and safe treatment option for CKD patients with hyperphosphatemia and anemia. More importantly, this alternative treatment may also less expensive. Nevertheless, more scientific studies are warranted to validate our findings.     

儿童特发性再生障碍性贫血的诊断与治疗

再生障碍性贫血(再障)以全血细胞减少和骨髓增生降低为显著特点。绝大多数病例为特发性,部分为继发性,与辐射、化学物和药物暴露、病毒感染有关。特发性再障发病机制不清,但免疫机制介导的造血干细胞损伤发挥着极为重要的作用。诊断主要依靠典型的临床表现和骨髓形态学检查,注意与其他可导致全血细胞减少的疾病鉴别,尤其是低增生性骨髓增生异常综合征。应综合患者年龄、临床严重程度、有无造血干细胞来源及其种类等因素,制定个体化治疗方案,合理选择联合免疫抑制治疗和造血干细胞移植的类型和时机。重视对症支持治疗措施。     

两种方案治疗肾衰血液透析病人贫血疗效对比

目的对比促红细胞生成素(erythropoietin,EPO)常规疗法与其联用左卡尼汀和苯丙酸诺龙对慢性肾衰血液透析病人贫血的疗效。方法选择28例慢性肾衰血透病人,随机分为A,B两组,A组给予EPO和补充叶酸、铁剂、维生素B12等常规治疗,B组除上述治疗外,加用苯丙酸诺龙、左卡尼汀。观察用药12周后贫血改善情况。结果两组病人治疗后贫血均有改善。B组改善更为明显。结论促红细胞生成素联合苯丙酸诺龙和左卡尼汀治疗慢性肾衰血液透析病人贫血比促红素常规疗法更有效。     

慢性再生障碍性贫血中西医结合优化治疗方案临床研究

目的评价补肾方联合雄激素及免疫抑制剂治疗慢性再生障碍性贫血（CAA）的临床疗效,以确立中西医结合治疗CAA的优化治疗方案。方法将39例CAA患者随机分为3组,对照组（16例）采用司坦唑醇片联合环孢素A（CsA）,试验一组（11例）辨证采用补肾Ⅰ、Ⅱ、Ⅲ号方治疗,试验二组（12例）在对照组基础上加用补肾Ⅰ、Ⅱ、Ⅲ号方治疗,疗程6个月。分别观察各组临床疗效及治疗前后患者外周血清促红细胞生成素（EPO）、干扰素-γ（IFN-γ）水平的变化情况。结果 3组在临床疗效、外周血象改善方面差异无统计学意义（P〉0.05）,但试验二组在贫血症状及中医证候的改善方面明显优于另外2组（P〈0.05）,并能显著降低IFN-γ水平（P〈0.05）。结论补肾方联合雄激素及免疫抑制剂治疗CAA在临床疗效、改善症状及提高血常规计数方面均优于单用中药或单用西药治疗。     

发热 贫血 血小板减少 神经系统异常

患儿男,13岁7个月。2010-11-04以发热伴面色苍白1周为主诉入住中国医科大学附属第一医院儿科病房。患儿1周前开始无诱因发热伴颈部包块,无触痛,咳嗽无痰,体温最高达39℃,同时伴有面色苍白、乏力,无皮肤黄染,尿色略黄。曾于当地医院就诊,静滴抗炎类药物3d(具体药物不详),病情无好转,化验发现贫血严重。患儿病来时有烦躁,无水肿,睡眠可,精神差,进食差,鼻衄2次,黑便1次,无明显腹痛及尿量减少。     

慢性再生障碍性贫血患儿血浆可溶性干细胞因子及其受体水平测定的意义

目的探讨可溶性干细胞因子(SCF)及其受体(s-kit)与儿童慢性再生障碍性贫血(CAA)发病的关系。方法利用ELISA法测定CAA患儿、正常儿童外周血浆及脐血血浆s-kit及SCF水平。结果CAA组血浆s-kit水平(13.02±5.18)μg/L低于正常儿童组(17.82±5.36)μg/L和脐血组(19.0±5.63)μg/L,CAA组血浆SCF水平(365.5±98.35)μg/L,低于正常儿童组(469.26±102.32)μg/L和脐血组(567.22±135.88)μg/L。结论CAA组血浆s-kit及SCF水平降低,提示s-kit及SCF可能在儿童CAA发病中起一定作用。