儿童血友病的预防治疗

1血友病儿童的现状血友病是遗传性、伴随终身的出血性疾病。身体各个部位都有可能发生出血,以关节最为常见,肌肉出血次之,内脏出血少见但病情较重。重型血友病儿童多于2岁左右发生关节出血,此后反复的关节出血导致慢性血友病性关节炎进而因关节畸形而致残,几乎是血友病患者的共同结局。     

儿童血友病的预防治疗

1 血友病儿童的现状血友病是遗传性、伴随终身的出血性疾病.身体各个部位都有可能发生出血,以关节最为常见,肌肉出血次之,内脏出血少见但病情较重.重型血友病儿童多于2岁左右发生关节出血,此后反复的关节出血导致慢性血友病性关节炎进而因关节畸形而致残,几乎是血友病患者的共同结局.     

儿童血友病预防治疗的研究进展

血友病是一种遗传性出血性疾病,包括血友病A及血友病B,多于儿童时期起病.长期反复出血易导致关节畸形,而按需治疗并不能逆转关节损伤,因此血友病的预防治疗逐渐受到重视.预防治疗旨在预防关节出血及关节病的发生,提高生存质量.目前已有多项临床试验证实了预防治疗的有效性.然而,预防治疗在最佳方案的选择、抑制物的产生、高昂的治疗费用等方面也面临着一些问题.     

儿童血友病的诊断与治疗

血友病作为一种先天遗传性疾病由于其伴性遗传、外伤后出血和实验室的特殊改变而被人们认识。血友病诊治水平的发展很好地体现了医学、科技发展的历程,其经历了面对死亡的昨天、提高生活质量的今天和期待摆脱疾病束缚的明天。现代儿童血友病治疗理念已经不仅仅是简单的诊断和出血后替代治疗,更强调的是如何减少致残,使患儿获得与其他孩子一样正常生活的机会。综合治疗、家庭治疗和预防治疗的开展是实现血友病患儿正常生活的保障。在我国,由于经济条件的限制,儿童患者的生存状态不容乐观,但是随着国家、社会的逐步重视和医疗事业的发展,儿童血友病患者必将有着更美好的明天。     

儿童血友病的治疗

血友病是一种由于FⅧ/FⅨ基因突变所引起的X-连锁隐性遗传性疾病,包括血友病A(由于凝血因子Ⅷ缺陷)和血友病B(由于凝血因子Ⅸ缺陷).根据血浆内凝血因子Ⅷ/Ⅸ浓度,血友病被分为重型(FⅧ/Ⅸ浓度<2%)、中型(FⅧ/Ⅸ浓度2%～5%)、轻型(FⅧ/Ⅸ浓度>5%～40%).     

儿童血友病的治疗

血友病是一种由于FⅧ／FⅨ基因突变所引起的X-连锁隐性遗传性疾病,包括血友病A（由于凝血因子Ⅷ缺陷）和血友病B（由于凝血因子Ⅸ缺陷）。根据血浆内凝血因子Ⅷ／Ⅸ浓度,血友病被分为重型（FⅧ／Ⅸ浓度〈2％）、中型（FⅧ／Ⅸ浓度2％～5％）、轻型（FⅧ／Ⅸ浓度〉5％～40％）。     

血管性血友病一例

患儿女,4岁。以反复皮肤粘膜出血3年入院。3年前因进食不慎将唇系带刮破,出血不止,3d后到当地医院就诊,检查血红蛋白80g／L,诊断为“血小板无力症”,给予全血100ml和云南白药局部压迫,出血止。2个月前患儿于剧烈运动后出现鼻衄,经鼻腔填塞后仍有少量渗血。检查血红蛋白为65g／L,予冷沉淀物1个单位和全血200ml后出血止。患儿平素易鼻衄,双下肢轻微外伤后易出现皮肤青紫及瘀斑,稍突出皮肤,10余天后消退。     

血友病患儿的围手术期治疗

血友病是儿科常见的遗传性出血性疾病,包括血友病A(凝血因子Ⅷ缺乏)和血友病B(凝血因子Ⅸ缺乏).患儿有自发出血或轻微损伤、手术后出血不止的倾向.本文简单介绍血友病患儿在手术需要时,术前诊断及分型、凝血因子动态监测、制剂选择、输注剂量和疗程等围手术期相关问题,以指导血友病患儿的手术和术后康复.     

血友病的诊断治疗研究进展

血友病是由于基因缺陷而使相关凝血因子含量不足或功能缺陷所致,发病率约５／１０００００－１０／１０００００。血友病分子遗传学的研究进展,高纯化和基因重组凝 因子的使用及对该类病人管理的加强,提高了血友病的基因诊断,治疗水平,降低了输血相关疾病的发生,改善了病人生活质量。     

小儿血友病出血部位分析

1978年1月至1992年4月,我科收住经实验室检查确诊的血友病9例,其中血友甲5例,血友病乙3例,血友病丙1例,血友病甲5例年龄1岁半～14岁,其中舌部出血,齿龈出血、右眼周围紫斑,齿龈出血、全身皮肤淤点,消化道出血,右肘关节腔反复出血后引起畸形、功能障碍各1例。     

儿童血友病的急救处理

普通门诊和急救科医务人员通常缺乏血友病诊治经验,因此,建立针对血友病的急救体系和诊疗标准十分必要.急救科医务人员需要识别未获诊断的出血性疾病患儿,对急诊就诊的血友病患儿应进行出血状况评估,尽快给予凝血因子替代治疗等止血措施,并要警惕抑制物的生成.     

A survey of the management of newborns with severe hemophilia in Canada

OBJECTIVE

To determine the practice patterns of Canadian hematologists and neonatologists/paediatricians who care for newborns with hemophilia, with regard to vitamin K administration, use of empirical clotting factor replacement therapy, neuroimaging and timing of hematology consultation.

METHODS:

Hematologists and neonatologists/paediatricians, identified from membership lists of Canadian professional organizations, were provided electronic and/or paper versions of the survey instrument. Questions were posed in the context of specific clinical scenarios. Differences in response proportions between groups were compared for selected questions.

RESULTS:

There were 171 respondents among 616 eligible persons who were sent the survey; 58 respondents had recent experience managing a newborn with hemophilia. There was a consensus not to provide empirical treatment to well newborns after uncomplicated deliveries, to provide empirical treatment to symptomatic newborns and to obtain neuroimaging for symptomatic newborns. Systematic differences between hematologists and neonatologists/paediatricians existed with regard to the timing of hematology consultation when the diagnosis of hemophilia had not been confirmed antenatally, the route of vitamin K administration for newborns with hemophilia and the choice of product to use for empirical treatment of a symptomatic newborn.

CONCLUSIONS:

The observed lack of consensus regarding important management decisions indicates a need for ongoing research in the care of newborns with hemophilia. Systematic differences between hematologists and neonatologists/paediatricians suggest a role for improved communication and collaboration between these two groups of practitioners.     

Management of hemophilia in developing countries

Coagulation disorder are common in India. In the absence of any epidemiological studies it is expected that there are at least 50,000 severe hemophilics in our country. The factor concentrates are not easily available in developing countries which poses a major problem while managing severe bleeding episodes in these patients. Various strategies which could be useful while managing these cases in developing countries have been reviewed     

血友病基因诊断的研究

目的对20名血友病甲患者和4例血友病乙患者进行基因诊断。方法 1血友病甲患者FⅧ基因检测:(1)内含子22倒位检测:首先采用长距离PCR(LD-PCR)对患者FⅧ基因内含子22倒位进行检测;(2)内含子1倒位检测:对内含子22倒位突变阴性患者,采用序列特异性PCR进行内含子1倒位突变检测;(3)点突变检测:对内含子22和1倒位突变阴性患者,针对FⅧ基因26个外显子和外显子-内含子交界区设计引物,采用PCR直接测序法检测点突变;(4)大片段缺失检测:对前三步检测阴性的患者,进一步采用多重连接探针扩增技术(MLPA)检测大片段缺失。2血友病乙患者FⅨ基因检测:(1)点突变检测:针对FⅨ基因的启动子、8个外显子和外显子-内含子交界区设计引物,采用PCR直接测序法检测点突变;(2)大片段缺失检测:对点突变检测阴性者,进一步采用MLPA检测大片段缺失。结果 20例血友病甲患者,共检出内含子22倒位8例,内含子1倒位1例,错义突变5例,插入突变1例,大片段缺失1例,剪切突变4例。4例血友病乙患者检测出错义突变2例,缺失伴插入突变1例,大片段缺失突变1例。其中新发现FⅧ基因突变3例(c.1009+2 CT,c.670+1 GC,c.4798delA),F9基因突变1例(c.938-939indelT)。结论本研究对血友病甲和血友病乙患者的基因诊断阳性率为100%。     

Cystic lymphangioma with special reference to rare sites

A 10 year retrospective study of 45 cases of cystic lymphangioma (CL) in children is presented. There were 25 females and 20 males. Age ranged from 6 months to 8 years. Common sites were involved in 38 and rare sites in 7 patients. Rare sites were—gluteal region (1), pelvis (1), retroperitoneum (1), mesentery (2), inguinal region (1) and inguinoscrotal region (1). The clinical presentation included sudden increase in size (25), lump abdomen (3), gluteal abscess (1), abdominal distension (1) and inguinal swelling (2). Diagnosis was established preoperatively in 38 cases, and after surgery and histopathology in 7 cases. Near total or subtotal excision was carried out in all cases. Facial nerve palsy (1) and recurrence (2) were the complications of surgery. The study is presented to highlight the occurrence of the cystic lymphangioma at rare sites to avoid diagnostic errors and unnecessary mutilating surgery.     

Studies on factor VIII activation potential in hemophilia A-plasma and its significance for the comprehension of hemophilia

In a factor VIII exchange test experiment higher factor VIII activities are measurable than would be expected from the single activities of the used plasmas. The same goes for the use of plasmas from carriers of hemophilia A, but not for plasmas from patients with v. W.J.S. (von-Willebrand Jürgens syndrome). In plasmas from hemophilic adults activation obviously proceeds at a slower rate than in plasmas from hemophilic children.The experimental results lead to the hypothesis that factor VIII for its activation needs a specific activator or activator system. This process can be stopped by natural inhibitors.Contrary to existing opinion, the coagulation defect of hemophilia A is not to be sought in an inability to be activated or even in absence of factor VIII, but in a previous step, in its activator. This activator is absent or defective. In patients with v.W.J.S. disease the activator or activator system is intact, but factor VIII is missing.The experiments were carried out with support from the Firm Immuno, Heidelberg.     

婴幼儿血友病并椎管内出血4例

对2017年1月至2018年12月广州市妇女儿童医疗中心确诊的4例血友病并椎管内出血患儿的临床资料进行回顾性分析。4例患儿临床表现不典型,早期仅表现为激惹哭闹不安、精神欠佳、抬头乏力,晚期可有斜颈、肢体乏力,易误诊。全脊髓磁共振成像是诊断椎管内出血的重要手段,最常见发病部位为颈胸段和胸腰段。4例患儿中,1例采用手术联合...     

新生儿血友病A 11例病例系列报告

目的 探讨新生儿血友病A的临床表现、诊治及预后。方法 对复旦大学附属儿科医院2016年2月1日至2019年6月30日收治的11例新生儿血友病A临床资料进行回顾性分析。结果 11例新生儿血友病患儿均为男性,3例有明确血友病家族史。2例无出血表现,2例仅表现为皮肤瘀点瘀斑,7例有出血表现。出血部位包括硬膜下、颅内、皮下、消化道。11例活化部分凝血酶时间(APTT)均延长,均为凝血因子Ⅷ缺乏,中间型9例,重型和轻型各1例。5例行基因检测者证实FⅧ基因突变,缺失2例,点突变3例。血友病A确诊后予静脉输注Ⅷ因子。随访至2019年6月9~10日,1例失访,4例无出血表现,1例有踝关节自发出血表现,5例表现为外伤后皮肤瘀点/皮下血肿。结论 新生儿期多次凝血功能异常,以APTT延长为主,特别是延长＞3倍者有或无出血表现均应考虑血友病可能,应行凝血因子活性水平测定及基因检测及早确诊,早期诊断和预防性输注凝血因子可改善预后。