【摘要】 目的 探讨重组人凝血因子Ⅷ制剂小剂量短程预防性输注能否有效减少中重度血友病A患儿关节出血问题。 方法 对2008年11月-2009年4月期间就诊的13例年龄3~11岁的中重度血友病A患儿，均在为期2个月内接受重组人凝血因子Ⅷ 2次/周、间隔3 d、每次7.5~10.0 U/kg的静脉预防性输注，记录治疗前2个月与治疗2个月时关节出血次数，以及同一关节反复发生出血的情况。 结果 治疗前关节出血的发生次数为（3.77±2.13）次，治疗后关节出血的发生次数为（0.46±0.87）次，治疗前后比较，差异有统计学意义（Plt;0.01）；治疗前靶关节出血的发生率为35.7％，治疗后靶关节出血的发生率为0.0%，治疗前后比较，差异有统计学意义（Plt;0.01）。患儿治疗成本约510~680元/（kg?2个月）。 结论 重组人凝血因子Ⅷ制剂小剂量短疗程预防性输注能有效减少中重度血友病A患儿关节出血次数，同时可有效减少靶关节出血的发生率，从而在一定程度上保护关节的功能。治疗费用相对可接受。【Abstract】 Objective To evaluate the efficacy of low-dose short-course infusion of recombinant human factor Ⅷ concentration in treating joint bleeding in children with severe and moderate hemophilia A. Methods Thirteen children aged 3 to 11 years old with severe or moderate hemophilia A were included in the present study from November 2008 to April 2009. For children in the treatment group, they were treated with low-dose short-course infusion of recombinant human factor Ⅷ concentration with a dose of 7.5-10.0 U/kg twice weekly as secondary prophylaxis for two months. The incidence of joint bleeding 2 months before treatment (control group) and during the 2 months of treatment (treatment group) was observed. Moreover, the incidence of their target joint bleeding was measured in both groups. Results Children in the control group had (3.77±2.13) joint bleedings while children in the treatment group had (0.46±0.87) joint bleedings, which was obviously lower than those in the control group (Plt;0.01). Meanwhile, the incidence of target joint bleeding in the treatment group was 0%, which was obviously lower than that in the control group (35.7%) (Plt;0.01). In the treatment group, the costs of treatment were about RMB 510-680 yuan/kg every 2 months. Conclusions Treatment with low-dose short-course infusion of recombinant human factor Ⅷ concentration can effectively decrease joint bleeding in children with severe and moderate hemophilia A, and can effectively decrease the incidence of target joint bleeding. Therefore, this method may play an important role in protection of the joint function in those patients at an acceptable cost.
目的 总结1例噬血细胞综合征的临床表现及治疗方案。 方法 2009年12月收治1例以皮疹为突出表现的噬血细胞综合征患儿的临床表现及治疗效果。 结果 患儿的皮疹表现突出，临床较少见；采用HLH-2004方案治疗后临床症状、体征及实验室指标短时间内恢复正常。近期随访，一般情况良好，血液学指标基本正常。 结论 患儿采用HLH-2004方案治疗后预后良好。
ObjectiveTo collect and analyze the clinical data and quality of life of hemophilic children, understand the present condition of these patients in Sichuan Province, and analyze related influencing factors. MethodWe retrospectively analyzed the clinical data of hemophilic children treated in our hospital from January 1, 2008 to May 30, 2015. ResultsThere were 92 child patients from Sichuan Province with a median age of 9.6 years old (ranging from 3.6 to 18.0). There were 87 cases (94.6%) of hemophilia A and 5 (5.4%) of hemophilia B; the number of light cases was 4 (4.3%), of moderate cases was 67 (72.8%), and of severe cases was 21 (22.9%); eighteen (19.6) of the patients had family history. First bleeding episode occurred at a median age of 11 months (0-48 months). Mild bleeding occurred in 23 cases (25.0%), moderate bleeding in 31 cases (33.7%), and severe bleeding in 38 cases (41.3%). First bleeding site was mainly the mucous membrane of the skin, followed by the joint muscles. Fist joint bleeding occurred at a median age of 18 months (2-107 months). Forty-six patients (59.0%) had severe joint damage during the course of the disease. Intracranial hemorrhage occurred in 4 patients (4.3%), among whom 3 were cured and discharged from the hospital, and 1 had neurological sequelae. Median diagnostic age was 12 months (0-120 months). Sixty-two (67.4%) were diagnosed in a short period of time, 9 (9.8%) in a mediate period of time, and 21 (22.8%) in a long period of time. Forty (43.5%) of the patients had been given sufficient coagulation factors, while all the others had not received sufficient replacement therapy. Fifty-six (60.9%) children had received prophylactic treatment. First prophylaxis was administrated at a median age of 36 months (1-199 months), but 27 (48.2%) discontinued. The median score of the 29 retreated Disease Burden Scale was 22.7±11.6 (4-43), and among them, 11 (37.9%) could not care for themselves. Twenty-three participated in the assessment of social activity ability, among whom, 2 did not attend school, and 6 could not take part in the assessment because of school learning. Correlation analysis showed that there was no significant relationship between diagnostic timing and family history (P=0.795) or between diagnostic timing and areas they came from (P=0.495). However, significant association was found between diagnostic timing and the severity of first bleeding (r=0.392, P=0.035). Disease burden of family was significantly correlated with the number of target joints (r=0.370, P=0.048), and was not closely related with area, severity of bleeding, frequency of hemorrhage, medical insurance, or physical and social activities. ConclusionsThe general diagnosis and treatment condition of child hemophilia in Sichuan is relatively under-developed with a high prevalence of joint damage, poor quality of life, and high disease burden to the family. Improvement in the care of hemophilia children is urgently needed.