Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene

Upshaw–Schulman syndrome (USS) is due to severe congenital deficiency of von Willebrand factor (VWF)‐cleaving protease ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 domains, nr 13) activity resulting in the presence of unusually large forms of VWF in the circulation, causing intravascular platelet clumping and thrombotic microangiopathy. Our patient, a 26‐year‐old man, had attacks of thrombotic thrombocytopenic purpura (TTP) with thrombocytopenia and a urine dipstick positive for hemoglobin (4+), often as the only sign of hemolytic activity. He had ADAMTS13 activity of <1% of normal plasma without the presence of inhibitors of ADAMTS13. ADAMTS13 deficiency was caused by two new mutations of the ADAMTS13 gene: a deletion of a single nucleotide in exon17 (c. 2042 delA) leading to a frameshift (K681C fs X16), and a missense mutation in exon 25 (c.3368G>A) leading to p.R1123H. This case report confirms the importance of the analysis of the ADAMTS13 activity and its inhibitor in patients who have episodes of TTP, with a very low platelet count and sometimes without the classic biochemical signs of hemolysis.     

Diagnosis and Management of Atypical Hemolytic Uremic Syndrome In Children: Single Centre Experience

Atypical hemolytic uremic syndrome (aHUS) although rare is the commonest cause of acute renal failure (ARF) in children and has poor prognosis. We present single centre experience of aHUS. Thirty six children (29 males, 7 females) with mean age, 7.9 years presented with ARF, 2 children also had tonic–clonic type convulsions. Their hematology examination revealed hemolytic anemia with s. creatinine (SCr), 5.54 mg/dl. Acute HUS was observed in 75 %, acute on chronic HUS in 19.4 % and patchy cortical necrosis (PCN) in 5.6 % biopsies. Mean 5.4 plasma exchanges (PE) were carried out. Supportive management of anti-hypertensives and prednisone was also given. Recovery end points were establishment of urine output, improvement of SCr and hematological profile. Hematology and renal function profile improved variably in all children, 5.6 % died, relapse was observed in 80.5 % over mean 70 days; 13.9 % children are doing well over mean follow-up of 268.8 days. Thus poor prognosis was observed in 86.1 % children. Children with acute on chronic HUS and PCN did not recover. Six children who recovered had acute HUS. aHUS in Indian children occurs at an older age of around 8 years and chronic/irreversible changes on histopathology examination are harbingers of poor prognosis. PE is life-saving however further research for developing strategies to improve long-term survival is needed.     

Acute pancreatitis induced thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is a rare syndrome of unknown cause with an estimated incidence of one case per million. The disease is characterized by a pentad of symptoms: Thrombocytopenia, microangiopathic hemolytic anemia, neurologic changes, renal dysfunction, and fever. It causes thrombosis in the microvasculature of several organs, producing diverse manifestations. Acute pancreatitis (AP) is a well-described consequence of TTP. Acute pancreatitis triggering TTP is uncommon.     

小儿血液系统疾病人细小病毒B_(19)感染的研究

目的:探讨我国西北地区血液系统疾病患儿人细小病毒B19(HPV B19)感染情况及两者的相关性。方法:对特发性血小板减少性紫癜、再生障碍性贫血和白血病患儿的外周血分别采用PCR方法检测HPV B19-DNA和ELISA方法检测HPV B19-IgG。结果:特发性血小板减少性紫癜患儿HPV B19-IgG阳性率为43.08%(28/65),白血病患儿HPV B19-IgG阳性率为41.07%(46/112),病例组较对照组比较有极显著性差异(P<0.01);再生障碍性贫血患儿HPV B19-IgG阳性率为21.43%(6/28),病例组较对照组比较有显著性差异(P<0.05)。65例特发性血小板减少性紫癜患儿HPV B19-DNA阳性率为40.00%(26/65);28例再生障碍性贫血患儿HPV B19-DNA阳性率为21.43%(6/28);112例白血病患儿HPV B19-DNA阳性率为27.68%(31/112);对照组HPV B19-DNA检测均为阴性。结论:HPV B19感染与我国西北地区部分血液系统疾病患儿发病相关。     

丙氨酰-谷氨酰胺强化营养支持治疗腹型过敏性紫癜患儿的临床研究

目的 了解丙氨酰-谷氨酰胺强化营养支持对于腹型过敏性紫癜患儿的临床有效性。方法 将需要营养支持的腹型过敏性紫癜患儿依据年龄、性别、病情进行分层，随机分为对照组（n=118）和强化营养组（n=107）。对照组未使用丙氨酰-谷氨酰胺，强化营养组使用丙氨酰-谷氨酰胺，根据病情给予静脉激素，其余治疗相同。比较两组患儿住院总时间、静脉激素使用率和时间、住院期间症状有无反复、全静脉营养使用率、体重降低发生率、禁食 > 5 d比例；并在出院后随访3个月，了解症状有无复发。结果 两组住院总时间、全静脉营养使用率、禁食 > 5 d比例比较差异无统计学意义（P > 0.05）；对照组静脉激素的使用比例和时间、症状反复、体重下降比例均高于强化营养组（P < 0.05）。出院后随访3个月，所有患儿均恢复了正常饮食，两组消化道症状复发率均小于20%，主要以腹痛为主要表现（83.33%，30/36），其次为呕吐和腹胀，无消化道出血表现，予以对症治疗可缓解，两组间消化道症状复发率比较差异无统计学意义（P=0.693）。结论 丙氨酰-谷氨酰胺强化营养支持治疗腹型过敏性紫癜患儿能够减少静脉激素的使用，降低体重的下降，但是对住院总时间和出院后复发无影响。     

Early cutis marmorata telangiectatica congenita masquerading as ulcerated retiform purpura: a diagnostic trap

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital cutaneous vascular anomaly with a reticular marbled erythematous pattern, which can result in isolated benign skin lesions or less commonly be associated with systemic anomalies. Occasionally, the characteristic pattern of CMTC lesions is masked on initial presentation, creating a diagnostic conundrum that can result in unnecessary workups to rule out vasculopathy. We present the case of a female newborn with a red-blue ulcerated skin lesion on the right leg and foot, which initially appeared as retiform purpura but evolved to exhibit the mottled pattern of CMTC by 5 days of age. Clinicians must be made aware of this potential diagnostic trap in early CMTC to avoid invasive skin biopsies and unnecessary laboratory testing in neonates.     

基于Citespace的中医药治疗过敏性紫癜可视化分析

目的:挖掘中医药治疗过敏性紫癜(HSP)的主要研究内容、研究前沿、作者合作网络、机构合作网络,为中医药治疗HSP的研究和发展提供参考。方法:利用Citespace("引文空间")软件系统对从中国知网数据库检索到的2878篇中医药治疗HSP相关文献进行可视化分析,对文献关键词进行聚类分析、突现分析,对作者、机构内容进行共现分析。结果:自1995年开始相关文献数量增长速度逐渐加快,2005年以后每年发表文献数量均稳定在100篇以上;聚类分析得到32个聚类,由396个节点,638条线组成,主要聚类结果包括小儿过敏性紫癜、活血化瘀药、紫癜性肾炎、凉血药、临床观察等;突现分析得出52个突现词,可看出中医药治疗HSP在治法上以凉血为主,其次是活血祛瘀和清热,常用药为牡丹皮、生地黄、赤芍等,病证表现上肾脏损伤的相关研究较多,临床上较重视名医经验、小儿过敏性紫癜的研究等;作者合作网络得到以丁樱、孙轶秋、何平为核心的3个主要合作团队图谱;机构合作网络分布图谱密度Density=0.0071。结论:中医药治疗HSP主要研究内容包括小儿过敏性紫癜、活血化瘀药、紫癜性肾炎、凉血药、临床观察等,当前的研究热点以小儿过敏性紫癜、名医经验、紫癜性肾炎、临床疗效为主,已形成相对较稳定的若干研究团队,但在机构合作上联系较为分散。     

西咪替丁联合潘生丁治疗86例过敏性紫癜患者的疗效分析

目的探讨西咪替丁联合潘生丁治疗过敏性紫癜的临床疗效。方法将在我院2012年6月至2013年6月收治的过敏性紫癜86例患者,随机分为观察组和对照组,观察组给予西咪替丁联合潘生丁治疗,对照组给予泼尼松、维生素C、维生素D、钙剂、氯雷他定治疗。比较两组患者临床疗效及不良反应的发生情况。结果观察组总有效率93.02%,对照组有效率79.07%,两组总有效率具有差异性(P<0.05)。且观察组患者皮肤紫癜消退时间,临床症状消失时间,住院天数均明显低于对照组,两组相比具有差异性(P<0.05),西咪替丁联合潘生丁也无明显不良反应。结论西米替西联合潘生丁治疗过敏性紫癜疗效显着,且无严重不良反应,使用便利,患者依从性好,值得临床广泛推广和使用。     

Cellular expression of CD markers in immune thrombocytopenic purpura: implications for prognosis

Immune thrombocytopenic purpura (ITP) is an autoimmune bleeding disorder associated with platelet destruction. Abnormalities in frequency and function of different immune cells can play a crucial role in this disease. The aim of this study was to evaluate the prognostic value of CD markers’ expressions by immune cells in ITP. Peripheral blood samples were collected from 25 ITP patients before and after treatment. The expression of CD markers was evaluated by flow cytometry technique. The expression of CD38 and CD56 was significantly lower before treatment than after it (p = 0.025 and p = 0.036, respectively). Furthermore, a positive correlation was found between CD38 expression with platelet count before (r = 0.496, p = 0.012) and after treatment (r = 0.404, p = 0.045). No significant relationship was found between this marker and platelet count while CD4 expression was higher before treatment than after it (p = 0.002). In conclusion, CD38 may have independent prognostic value in ITP and we suggest that it can be a prognostic marker for this disease.