Haemolytic uraemic syndrome

Haemolytic Uraemic Syndrome (HUS) is characterised by haemolytic anaemia, thrombocytopenia and acute renal failure in the absence of disseminated intravascular coagulation. Thrombosis in the microcirculation with consumptive thrombocytopenia and mechanical haemolytic anaemia with fragmented red cells results in ischaemic organ damage. The kidney is the organ predominantly affected but extra-renal manifestations may occur. Central nervous system involvement may cause seizures, altered consciousness, hemiparesis and brain stem dysfunction. Cardiomyopathy, liver dysfunction and diabetes are all recognised. Prodromal diarrhoea occurs in 90–95% of cases. This is referred to as typical or D + HUS. Young children are most commonly affected. Infection with shiga-like toxin producing E. coli is the most important risk factor. There is good evidence that the toxin plays a key role in pathogenesis. The 5% of cases in which there is no diarrhoeal prodrome are referred to as atypical HUS (aHUS). The mortality in the acute phase of D + HUS varies between 2 and 12% being higher in outbreaks. The mortality in the acute phase of aHUS is much higher at around 20%. Recent advances in understanding have led to the recognition of abnormalities of complement regulation, abnormal circulating von Willebrand factor multimers, infections and drugs as causes of atypical HUS.     

Haemolytic uraemic syndrome

Haemolytic uraemic syndrome (HUS) the commonest cause of acute renal failure (ARF) in children. It is categorized by a triad of clinical features, haemolytic anaemia, thrombocytopenia and ARF. HUS is subdivided in to two broad categories, typical, usually diarrhoea positive D + HUS (more than 90% of cases) most commonly caused by Shiga toxin (Stx)-producing Escherichia coli (STEC; also called verotoxin, VTEC). Atypical, usually diarrhoea negative D ? HUS or aHUS (approximately 5% of cases).Clinical spectrum of HUS is initiated by intestinal colonization of STEC. Histological appearance of HUS shows widespread thrombotic microangiopathy (TMA) in renal glomeruli, the gastrointestinal tract, the brain, and the pancreas. Intraluminal thrombosis occurs leading to partial or complete obstruction of the vessel lumen.The aim of this review is to summaries the latest development and understanding of this condition. Focussing on epidemiology, pathophysiology and disease course. An emphasis on the diagnosis, management and follow-up of HUS has also been taken.     

Haemolytic uraemic syndrome.

The haemolytic uraemic syndrome is an acute illness characterised by the occurrence of renal injury, haemolytic anaemia with red cell fragmentation and thrombocytopenia. Haemorrhagic diathesis, arterial hypertension and neurological manifestations often complicate the acute phase of the disease. In this article, we shall discuss in more detail the aspects of this phase. Data obtained in 72 patients treated at the Wilhelmina Children's Hospital in Utrecht, from 1964 to 1977, are used to illustrate the characteristics of the disease.     

Case series of thrombotic thrombocytopenic purpura in children and adolescents

Thrombotic thrombocytopenic purpura (TTP) is a well-described entity in adults but is rarely observed in children. The authors describe a series of seven children with suspected acquired TTP. Clinical findings included petechiae, purpura, or jaundice ( 6), central nervous system events ( 5), fever ( 3), diarrhea ( 3), renal insufficiency ( 2), and hematuria ( 2). Significant central nervous system events included cerebral vascular accidents ( 2), altered mental status ( 2), seizures ( 1), and hemiparesis ( 1). Patients were treated with daily plasma infusions (1/7) or plasma exchange (5/7). Response was prompt, although relapses were frequent. Decreased vWF-protease activity was found in four of five cases and vWF-protease inhibitors were found in three of five cases. Although rare, TTP is a life-threatening illness that does occur in children and should be considered in the differential diagnosis of thrombocytopenia with hemolytic anemia.     

Use of vincristine and cyclosporine in childhood thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening hematologic disorder in children. Plasmapheresis, the standard therapy for TTP, is effective in achieving remission in most patients. However, some patients become either refractory to or dependent upon plasmapheresis. The authors report three such patients in whom the use of vincristine or vincristine plus cyclosporine resulted in permanent remission. A 12-year-old girl with TTP dependent on plasmapheresis for more than 5 months responded to vincristine with a decrease in the required frequency of plasmapheresis, but the addition of cyclosporine abrogated the need for further plasmapheresis. She subsequently developed serologic evidence of systemic lupus erythematosus. Two 15-year-old boys with TTP (one of them with underlying mixed connective tissue disease) became refractory to plasmapheresis after a brief initial response. The addition of vincristine in one patient and vincristine and cyclosporine in the second (with mixed connective tissue disease) led to complete remission. The authors' experience in this case study of three patients suggests that vincristine and cyclosporine are effective agents in the management of patients with TTP who do not achieve complete remission with plasmapheresis alone.     

儿童获得性血栓性血小板减少性紫癜五例分析

目的:探讨儿童获得性血栓性血小板减少性紫癜(aTTP)的临床特点、治疗情况以及预后。方法:回顾性病例总结,以2016年1月至2019年7月于首都医科大学附属北京儿童医院住院治疗的5例aTTP患儿为研究对象,分析患儿临床表现、实验室检查、治疗及预后情况。结果:纳入5例aTTP患儿,占同期血栓性血小板减少性紫癜患儿的5/11,其中男2例、女3例,发病年龄8.9(0.8~14.5)岁。5例患儿均存在血小板减少和微血管病性溶血性贫血,仅1例存在经典五联征,3例患儿伴神经系统症状,3例有发热,而肾功能损伤相对少见(1例)。5例患儿均存在重度血小板减低[7(4~14)×10⁹/L]及血红蛋白下降[70(58~100)g/L];血生化检查示3例总胆红素水平升高,均以间接胆红素升高为主,5例乳酸脱氢酶水平均升高,1例尿素氮升高。骨髓穿刺提示巨核细胞数目不低。ADAMTS13活性检查均为0,4例ADAMTS13抑制物阳性,1例为阴性。5例患儿均接受糖皮质激素治疗,并且在疾病早期应用利妥昔单抗治疗,3例患儿接受血浆置换。5例患儿血小板恢复正常的时间为开始治疗后的19(9~29)d。1例患儿在治疗9个月后出现复发,再次予糖皮质激素及利妥昔单抗治疗后病情稳定,随访3年以上确诊为系统性红斑狼疮。截至2020年12月1日,随访24(16~57)个月,5例患儿临床症状消失,未次随访血小板计数为159(125~269)×10⁹/L。结论:儿童aTTP患者较为少见,各年龄段均有发病,临床表现以血小板减少及微血管病性溶血为主,血浆ADAMTS13活性及抑制物检测有助于aTTP的诊断。血浆置换及利妥昔单抗治疗有效,该病需长期随诊监测。     

以血小板减少性紫癜为主要表现的儿童嗜酸性粒细胞增多综合征

患儿男,1岁11个月,因发热、皮疹3 d入院。患儿为第3胎第1产,孕23周,母因妊高症早产。无哮喘及过敏家族病史。无生食食物史。发病初期于四肢远端及颈部出现针尖大小红色皮疹,后遍及全身,伴中等发热。体检:体温38·6℃,呼吸25次/min,血压80/60 mmHg,反应弱,全身皮肤散在直径约1~5 mm的瘀斑和瘀点,以躯干部及臀部为著,下肢少。全身浅表淋巴结未及。心肺无异常。肝肋下4 cm,剑突下2 cm,质中,边锐,脾未及。无杵状指(趾),神经系统查体正常。实验室检查:WBC 30·0×109/L,N0·38,L 0·12,M 0·03,E 0·46,嗜酸性粒细胞绝对计数1·98×109/L,RB…     

溶血尿毒综合征和血栓性血小板减少性紫癜

溶血尿毒综合征 /血栓性血小板减少性紫癜 (hemolyticuremicsyndrome/thromboticthrombocytopeniapurpura ,简称HUS/TTP)两者在流行病学、病理生理、临床特征和治疗方法上有许多共同之处 ,尤其在病理学上很难区分。近年来HUS/TTP发病有增多趋势 ,有关HUS/TTP的研究也取得了不少进展。本文就此给予综述。1　内皮细胞损伤的致病因子1 1　Shiga 毒素　志贺痢疾杆菌 1型和 10 0余种埃希氏大肠杆菌 (EHEC)血清型可以产生Shiga 毒素 (Stx) ,最常见的病原体是EHECO15 7:H7,比较常见的有EHECO111、E HECO2 6 :H11、EHECO10 3:H2…     

Successful treatment of relapsing autoimmune thrombotic thrombocytopenic purpura with rituximab

Thrombotic thrombocytopenic purpura (TTP) is a rare but life‐threatening condition characterized by thrombotic microangiopathy. The standard treatment for TTP is plasmapheresis. For refractory or relapsing cases, various immunosuppressive agents have been tried, and among them rituximab has shown promising results. TTP is rarer in the pediatric age group and the use of rituximab in children with TTP is limited. Reported herein is the successful treatment of relapsing autoimmune TTP with rituximab in a 12‐year‐old girl.     

Haemolytic uraemic syndrome in a patient with acute lymphoblastic leukaemia

We describe a patient diagnosed with haemolytic uraemic syndrome (HUS) during long‐term maintenance therapy for childhood acute lymphoblastic leukaemia (ALL). He rapidly developed renal failure, hypertension and profound thrombocytopenia. Despite suffering a large intracerebral haemorrhage, he made a full recovery without residual neurological or renal deficit. His case raises the question of whether ALL or its treatments predispose an individual to developing HUS. Pediatr Blood Cancer. 2010;55:1402–1405. © 2010 Wiley‐Liss, Inc.