血栓性血小板减少性紫癜误诊1例

患者，女，19岁，因“发热、腹泻3d，伴牙龈出血、右肩右髋部出血点1d”，至我院急诊就诊。患者入院前3d无明显诱因出现腹泻、呕吐、高热、腹痛，腹泻初为水样便，量多，后逐渐为黑色便，发热体温最高达40℃。在家自服去痛片、阿莫西林、安乃近等药。入院前1d出现牙龈出血，伴右肩、右髋部出血点。来诊时急查化验示血常规：     

Disorders characterized by predominant or exclusive dermal inflammation

Some cutaneous inflammatory disorders are typified by a predominant or exclusive localization in the dermis. They can be further subdivided by the principal cell types into lymphocytic, neutrophilic, and eosinophilic infiltrates, and mixtures of them are also seen in a proportion of cases. This review considers such conditions. Included among the lymphoid lesions are viral exanthems, pigmented purpuras, gyrate erythemas, polymorphous light eruption, lupus tumidus, and cutaneous lymphoid hyperplasia. Neutrophilic infiltrates are represented by infections, Sweet syndrome, pyoderma gangrenosum, and hidradenitis suppurativa, as well as a group of so-called “autoinflammatory” dermatitides comprising polymorphonuclear leukocytes. Eosinophil-dominated lesions include arthropod bite reactions, cutaneous parasitic infestations, the urticarial phase of bullous pemphigoid, Wells syndrome (eosinophilic cellulitis), hypereosinophilic syndrome, and Churg-Strauss disease. In other conditions, eosinophils are admixed with neutrophils in the corium, with or without small-vessel vasculitis. Exemplary disorders with those patterns include drug eruptions, chronic idiopathic urticaria, urticarial vasculitis, granuloma faciale, and Schnitzler syndrome (chronic urticarial with a monoclonal gammopathy).     

慢性特发性血小板减少性紫癜发病机制研究进展

特发性血小板减少性紫癜是一种异质性自身免疫性疾病，是儿童最常见的出血性疾病，尤其慢性患儿的健康相关生活质量受到严重影响，但其病因及发病机制目前仍不清楚。研究发现，遗传因素可能参与该病的发生及预后。该文从其危险因素、基因多态性和表达水平与其易患性及病情严重情况的关系、表观遗传的作用、慢性难治性特发性血小板减少性紫癜相关研究等方面作一综述。     

血浆高敏C-反应蛋白对儿童紫癜性肾炎病理分级与临床分型的评估价值

目的探讨血浆高敏C-反应蛋白对紫癜性肾炎病理分级与临床分型的评估价值.方法 选择190例确诊为紫癜性肾炎患儿及60例健康儿童作为对照组,检测两组血浆高敏C-反应蛋白水平,同时评估紫癜性肾炎患儿病理分级和临床分型.采用Spearman秩相关分析评估紫癜性肾炎患儿血浆高敏C-反应蛋白水平与病理分级及临床分型的关系.结果 紫癜性肾炎患儿血浆高敏C-反应蛋白水平明显高于对照组(6.5±3.2 mg/L,0.9±0.2 mg/L,P<0.05);随着患儿病理分级与临床分型加重,其血浆高敏C-反应蛋白水平也逐渐升高,相关分析结果提示血浆高敏C-反应蛋白水平和病理分级及临床分型呈正相关,相关系数分别为0.854(P<0.05)和0.892(P<0.05).结论 紫癜性肾炎患儿血浆高敏C-反应蛋白与其病理分级和临床分型存在明显相关,血浆高敏-C反应蛋白水平在一定程度上能够反应紫癜性肾炎肾组织病理改变及临床病情严重性.     

The predictive value of crescents in adult Henoch-Sch?lein purpura nephritis

Objective To study the renal prognosis with the type and proportion of crescentic in adult Henoch Schonlein purpura nephritis (HSPN). Methods A total of 275 HSPN cases diagnosed in the First Affiliated Hospital of Zhejiang University were retrospectively analyzed. According to the pathological results, they were divided into four groups: 99 patients in none crescent group (NC), 35 patients in segmental crescents group (SC), 122 patients with circumferential crescent ＜25% (C1), and 19 patients with circumferential crescent≥25% (C2). Renal prognostic events were defined as estimated glomerular filtration rate (eGFR) decreased by 30% over baseline within 2 years, doubling of serum creatinine or end-stage renal disease during follow-up. Kaplan-Meier survival analysis was used to compare the renal survival rate of each group. Univariate and multivariate Cox regression model was used to recognize the risk factor of poor renal outcome. Results There was no significant difference in age, extra renal organ performance and mean arterial pressure among groups. Among NC group, SC group, C1 group and C2 group, difference in serum creatinine (P=0.001), eGFR (P=0.003) and proteinuria levels (P＜0.001) were statistically significant. There was no significant difference in the ratio of global sclerosis, mesangial hypercellularity and interstitial inflammation/fibrosis among the groups. The patients were followed up for 86(58, 116) months. The renal survival rates of NC group, SC group, C1 group and C2 group were 96%, 100%, 83.6% and 68.4% respectively. Kaplan-meier survival analysis showed significant differences (Log Rank=23.24, P＜0.001). Cox multivariate regression analysis indicated that presence of circumferential crescent (HR=3.59, 95%CI 1.34-9.62, P=0.008) and low eGFR (HR=0.979, 95%CI 0.968-0.989, P＜0.001) were independent prognostic factors. Conclusion The presence of circumferential crescent and low eGFR level are independent risk factors for poor renal prognosis in HSPN patients.     

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.     

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.