儿童继发于甲基丙二酸血症的微血管性溶血及肾脏损伤病例分析

目的总结以微血管性溶血及肾脏损伤为主要表现的甲基丙二酸血症(MMA)患儿的临床特点。方法回顾性分析4例以微血管性溶血及肾脏损伤为主要表现的MMA患儿的临床资料。结果 4例患儿中,男女各2例,年龄为9个月到3岁7个月。2例确诊为MMA合并同型半胱氨酸血症;2例确诊为MMA,但未行同型半胱氨酸检查。4例患儿均表现为中重度贫血、蛋白尿、血尿、高血压,其中1例患儿肾功能异常且有血小板减低,表现为溶血尿毒综合征。2例患儿行肾脏穿刺活检,分别为肾小球增生硬化性病变伴肾小管坏死、系膜增生性肾小球肾炎。4例患儿均给予维生素B12等治疗,治疗后微血管性溶血指标及肾脏损伤指标明显好转。结论 MMA可出现微血管性溶血及肾脏损伤,甚至出现溶血尿毒综合征,需要及时诊断和治疗。     

儿童溶血尿毒综合征

溶血尿毒综合征(hemolytic uremic syndrome,HUS)是儿童急性肾功能衰竭常见原因之一,临床分为腹泻后HUS(post-diarrheal HUS,D+HUS)及无腹泻HUS(non-diarrheal HUS,D-HUS),后者又包括继发性HUS及特发性HUS。本文分析了10年来30例就诊于北京儿童医院的溶血尿毒综合征     

儿童典型溶血尿毒综合征36例临床分析

目的探讨儿童典型溶血尿毒综合征(D+HUS)的临床表现、辅助检查结果、预后及治疗。方法分析2001年1月至2019年1月中国人民解放军东部战区总医院儿科收治的36例D+HUS患儿的临床资料,比较治疗前后血常规、肝肾功能、凝血功能、体液免疫和尿液等实验室检查结果。结果经治疗,患儿血白细胞计数[(9.28±6.77)×109/L比(11.20±5.93)×10^9/L]、C-反应蛋白[7.15(3.34,29.33)mg/L比31.83(25.03,39.75)mg/L]、网织红细胞计数[(112.49±76.25)×10^9/L比(206.49±147.99)×10^9/L]、红细胞沉降率[15.02(11.79,22.83)mm/1 h比28.06(24.13,40.52)mm/1 h]、天冬氨酸氨基转移酶[50.04(41.92,60.11)U/L比62.61(54.58,83.52)U/L]、丙氨酸转氨酶[16.72(11.80,24.74)U/L比24.54(20.30,34.36)U/L]、尿酸[(532.84±309.06)μmol/L比(606.64±327.23)μmol/L]、血肌酐[160.07(124.87,221.18)μmol/L比200.56(160.62,283.01)μmol/L]、血尿素氮[20.74(15.77,28.40)mmol/L比33.67(25.91,45.84)mmol/L]、乳酸脱氢酶[488.21(337.59,692.82)U/L比1520.68(734.24,2272.10)U/L]、凝血酶原时间[(12.14±5.89)s比(17.91±6.12)s]、活化部分凝血酶时间[(25.05±6.26)s比(32.38±5.49)s]、纤维蛋白原[(3.79±2.17)g/L比(5.17±3.88)g/L]、D-二聚体[0.92(0.30,1.13)mg/L比1.27(1.01,1.90)mg/L]、24 h尿蛋白定量[(84.05±44.19)mg/(kg·24 h)比(112.18±78.26)mg/(kg·24 h)]、尿沉渣[175.73(79.72,258.66)×10^7/L比160.38(118.68,361.83)×10^7/L]、尿N-乙酰-β-D-葡萄糖苷酶[25.10(18.84,33.02)U/(g·cr)比41.57(29.49,58.61)U/(g·cr)]和尿视黄醇结合蛋白[0.35(0.18,1.33)mg/L比1.05(0.66,1.68)mg/L]水平均明显下降,差异均有统计学有意义(均P<0.05);红细胞计数[(4.51±1.73)×10^9/L比(2.43±1.40)×109/L]、血小板[(126.82±78.35)×10^9/L比(85.21±69.38)×10^9/L]、血红蛋白[(118.46±18.27)g/L比(62.36±16.11)g/L]和补体C3[(0.74±0.39)g/L比(0.58±0.27)g/L]水平均明显升高,差异均有统计学有意义(均P<0.05)。儿童D+HUS表现为多系统损伤,36例患儿中,发热17例(47.22%);腹痛、腹泻31例(86.11%),恶心、呕吐29例(80.56%);头痛、头晕8例(22.22%);蛋白尿、血尿36例(100.00%),肾功能不全34例(94.44%);皮肤巩膜黄染21例(58.33%)。肾脏病理主要表现为系膜增殖,内皮细胞增殖、肿胀和肾小管刷状缘脱落等,骨髓穿刺示骨髓增生活跃。肾脏B超示86.67%存在双肾肾损伤。结论儿童D+HUS表现为多系统损伤,消化系统异常是儿童D+HUS的最主要诱发因素,且病情凶险,早诊断和积极治疗可改善预后。     

以血栓性微血管病为突出表现的甲基丙二酸血症临床分析

目的:总结以血栓性微血管病为突出表现的甲基丙二酸血症的临床特点。方法:收集2014年9月至2019年12月中国医科大学附属盛京医院收治的以血栓性微血管病为突出表现的甲基丙二酸血症6例患儿的病例资料,分析临床表现及实验室检查、影像学、肾脏组织病理学检查结果,治疗及预后情况。结果:6例患儿中,男5例,女1例,年龄1个月～7...     

溶血尿毒综合征临床特征及影响预后因素

目的探讨溶血尿毒综合征(HUS)的临床特征、实验室检查、治疗方法及影响预后的相关因素。方法回顾性分析1998-2010年本院32例HUS住院患儿临床资料,组间比较采用t检验、Wilcoxon符号秩检验、Fisher’s精确概率法。对HUS患儿预后进行多因素非条件Logistic回归分析。结果 1.HUS患儿32例分为2组。腹泻后HUS(D+HUS)占同期收治HUS的53.13%(17/32例),7例透析治疗,病死率11.76%。无腹泻HUS(D-HUS)占46.87%(15/32例),9例透析治疗,病死率6.67%。2组平均病死率9.38%。2.平均少尿及无尿持续时间D-HUS组明显长于D+HUS组(P<0.05)。3.平均接受透析时间D-HUS组明显长于D+HUS组(P<0.05)。患儿平均住院时间>15 d者D-HUS组多于D+HUS组(P=2.67×10-6)。4.少尿持续时间长、PLT低水平、BUN高水平、Scr高水平、pH值低水平与预后明显相关(Pa<0.05)。透析治疗介入较晚、LDH高水平与预后显著相关(Pa<0.01)。结论儿童D-HUS较之D+HUS病情重,病程长。少尿持续时间长、LDH高水平者病死率高。早期诊断、早期透析治疗是降低病死率的关键。     

恙虫病诱发溶血尿毒综合征1例

患儿 ,女 ,12岁 ,因持续发热 7d ,面色苍白、尿量少、浓茶样小便 2d入院。 7d前体温波动于 39～ 4 0℃ ,自觉畏寒、咽痛、懒言。近 2d面色苍白 ,尿量减少 ,小便呈浓茶样。查体 :体温 39℃ ,脉搏 12 0次 /min ,呼吸 36次 /min ,血压 10 .0 / 6kPa。神志恍惚 ,痛苦面容 ,面色苍白 ,贫血貌 ,咽红 ,双侧扁桃体轻度肿大。颈软 ,心率 12 0次 /min ,律齐 ,无杂音。双肺闻及中小水泡音。腹软 ,肝右肋下 4cm ,轻触痛 ,脾未触及 ,左腋窝见一椭圆形 0 5cm× 0 5cm浅表性溃疡 ,创面干净 ,无触痛 ,浅表淋巴结不大 ,全身未见出血点。血白细胞15 6× 10…     

溶血尿毒综合征的某些进展

1955年Gasser等首次报道溶血尿毒综合征(HUS)以来,世界各国都有报道。本病常见于4岁内婴幼儿(国内以学龄期儿童多见).其病理学特征为伴有血管炎的微血管病和血小板血栓形成,导致溶血性贫血、血小板减少和氮质血症等三征。有时可并发神经系症状。目前不少文献报道肾小球纤维     

小儿溶血尿毒综合征10例临床分析

目的探讨小儿溶血尿毒综合征(HUS)的临床特点及诊治经验。方法总结分析7a间收治的10例溶血尿毒综合征患儿的临床表现、辅助检查和治疗过程及疗效。结果10例HUS均具备不同程度溶血性贫血、血小板减少和急性肾功能不全。部分病例有上呼吸道感染病史(40%)或腹泻病史(20%)。该病的诊断必须对病史、临床表现以及实验室检查结果进行综合分析,治疗的关键是早期改善肾功能不全、及时纠正贫血及血小板减少。糖皮质激素疗效不佳,不应作为首选,丙种球蛋白对于部分患儿有效,对于重症和不典型HUS患儿,早期联合应用血浆置换可以迅速控制病情,改善症状。结论早诊断、早治疗,选择正确的治疗方案是该疾病取得良好预后的关键因素。     

甲基丙二酸血症患儿血浆microRNA表达变化的初步研究

目的 筛选甲基丙二酸血症（MMA）患儿血浆中表达差异的microRNA（miRNA）,并检测miR-9-1 在MMA 患儿血浆中的表达变化,初步探讨miR-9-1 作为MMA 潜在的生物标记物的意义。方法 收集17 例MMA 患儿血浆样本,其中MMA 合并高同型半胱氨酸血症12 例（MMA+HHcy 组）、不伴高同型半胱氨酸血症的MMA 5 例（MMA 组）;另收集10 例非MMA 的高同型半胱氨酸血症（HHcy 组）和10 例健康对照者的血浆样本。采用miRNA 微阵列基因芯片法筛选具表达差异的miRNA,选择具有表达差异的miR-9-1 行RTPCR法检测血浆中miR-9-1 的表达。选择经维生素B12 治疗的MMA 患儿检测治疗后血浆miR-9-1 表达的变化。结果 miRNA 微阵列基因芯片共筛选出26 个具有表达差异的miRNA,其中下调2 倍以上的miRNA 16 个（包括miR-9-1）,上调2 倍以上的10 个。MMA+HHcy 组、MMA 组及HHcy 组 miR-9-1 的表达量较健康对照组均显著下调（P结论 miR-9-1 在MMA 患儿血浆中显著下调,维生素B12 治疗后显著上调,可作为监控MMA 病情变化的指标。     

影响儿童溶血尿毒综合征预后相关因素及治疗探讨

目的探讨影响儿童溶血尿毒综合征预后的相关因素及治疗.方法对30例溶血尿毒综合征住院患儿进行临床分析及随访.结果患儿血肌酐与血红蛋白、无尿时间呈线性相关;激素治疗反应与血红蛋白水平呈正相关(r=0.424,P＜0.05)、与复发呈负相关(r=-0.409,P＜0.05);抗凝治疗与有否复发及持续蛋白尿呈负相关(r=-0.640,-0.636;均为P＜0.01);有否持续蛋白尿是决定预后的关键因素(P＜0.01).结论溶血程度、有否少尿及无尿持续时间是影响患儿肾脏功能的重要因素;持续蛋白尿是决定预后的关键因素;应用激素可以缓解溶血;抗凝治疗能减少蛋白尿及复发.     

溶血性尿毒症综合征急性期后治疗探讨

目的探讨溶血性尿毒症综合征（HUS）患儿渡过急性期后如何促进肾功能的修复、延缓肾损害进程,探讨HUS急性期后的治疗方法。方法分析1993年至2005年我科收治的17例HUS患儿的临床资料。13例接受急性期后治疗患儿除用血管紧张素转化酶抑制剂（ACEI）和限制蛋白质摄入外,参照中华医学会儿科学分会肾脏病学组制定的“小儿肾小球疾病的临床分类、诊断及治疗”（方案）,按临床分型、对泼尼松治疗的反应及病理类型拟定治疗方案。2例临床表现为肾小球肾炎的患儿中1例应用雷公藤多甙。11例表现为肾病综合征的患儿均用泼尼松;其中5例泼尼松治疗不缓解或部分缓解者,加用环磷酰胺冲击（4例）或甲泼尼龙冲击（1例）治疗;3例因肾组织病理改变为膜增殖＋／-局灶节段性肾小球硬化、新月体形成,加用甲泼尼龙冲击。结果随访2个月～8年,轻型4例（1例复发1次）血压、血尿素氮（BUN）、血肌酐（Cr）及尿常规均正常。重型9例中6例血压、BUN、Cr、尿常规正常;3例持续尿检异常,肾功能不全,且没有坚持治疗,分别于病程的第3、9和13个月死亡。4例（均为重型）放弃治疗者分别于病程的第27～48天死亡。结论对渡过急性期的HUS患儿依据其临床分型和肾病理改变参照肾脏病学组制定的方案治疗有望改善预后。除急性期病情轻重、治疗的合理性影响预后外,患儿家长对治疗的依从性也是一个重要因素。     

Hemolytic uremic syndrome

Hemolytic uremic syndrome is primarily a disease of childhood. Seventy three children presented with clinical signs and symptoms were studied in detail. Seventy four percent of them were under two years of age. Many of these children had clinical evidence of involvement of organs other than the kidney. Mortality among the children studied was 60%. The high mortality is possibly due to involvement of non renal organs in addition to factors like malnutrition, delay in seeking hospitalization etc. Some of the recent trends in the pathogenesis, pathology and management have been reviewed.     

Timing of colonic necrosis in hemolytic uremic syndrome

Hemolytic uremic syndrome (HUS) consists of an acute onset of microanglopathic hemolytic anemia, thrombocytopenia, and renal dysfunction. HUS-associated colitis can be seen in up to 100% of patients and is usually associated with severe abdominal pain and distention. Colonic perforation is a complication of HUS that has a reported incidence of 1%–2%, and although there are several case reports in the literature describing perforation of the colon, it is still very difficult to discern the abdominal symptoms associated with HUS colitis from perforation. Four cases of colonic perforation are reported here from a consecutive series of 57 patients, in which a trend in the length of time from the onset of symptoms of HUS to colonic perforation was determined. A review of the literature for cases of HUS-associated colonic perforation was also performed. The time from the onset of HUS symptoms to colonic perforation in our series was similar to that found in the literature review (11 ± 5 vs 14 ± 8 days). Awareness that this complication has a tendency to occur towards the end of the 2nd week during the course of HUS is essential to avoid an unnecessary and untimely surgical intervention. Accepted: 25 June 1997     

血浆置换在溶血尿毒综合征治疗中的应用

目的 探讨血浆置换在治疗溶血尿毒综合征(hemolytic uremic syndrome,HUS)中的意义.方法 对本院2008年1月至2010年12月收治的16例HUS患儿进行血浆置换治疗;以新鲜冰冻血浆作置换液,治疗时间每次2～3h.结果 16例患儿经血浆置换治疗均存活,无明显并发症出现.全部患儿首次治疗后病情明显缓解;12 -72 h,黄疸消失,血肌酐[(385.0±189.4)μmol/L vs( 100.0±19.3)μmol/L]、乳酸脱氧酶明显下降[(799.3±289.8)U/L vs (300.0±100.4) U/L],血小板计数[(45.0±18.8)×109/L vs( 120.0±20.0)×109/L]、血红蛋白回升[(59.3±15.3) g/L vs (120.0±18.3) g/L],差异均有统计学意义(P＜0.05).出院时15例患儿症状消失,14例实验室检查正常.住院时间为15 ～57 d.结论 血浆置换可以有效缓解病情,清除血浆致病物质,及时阻断HUS的病理过程,补充血浆中有效成分.推荐血浆置换作为治疗HUS的首选治疗方案.     

Diarrhea-associated hemolytic uremic syndrome in southern Alberta: A long-term single-centre experience

BACKGROUND:

Reports of long-term incidence trends of endemic diarrhea-associated hemolytic uremic syndrome (D+HUS) are few and inconclusive.

OBJECTIVE:

To define and analyze the incidence and outcomes of D+HUS over a period of approximately 25 years in a highly endemic region of southern Alberta.

METHODS:

Annual incidence rates of confirmed cases of D+HUS were compared between two 12-year periods (1980 to 1992 and 1994 to 2006). Differences in therapies used, and some short- and long-term complications observed were also compared between the two periods.

RESULTS:

The absolute yearly number of D+HUS cases was highly variable. The comparison between the 1980 to 1992, and 1994 to 2006 periods demonstrated a modest 8.8% decrease in the total number of cases. The population-based average annual incidence rates were not significantly different between the two time periods (3.33 cases versus 2.58 cases per 100,000 population per year, respectively; P=0.30). Only supportive care measures were used in the latter period. A mortality rate of lower than 1% in the latter period was one of the lowest ever reported for a large cohort of D+HUS patients.

CONCLUSION:

The present long-term retrospective study of D+HUS in a highly endemic area documented a modest decrease in the absolute number of cases but no difference in the average annual incidence over an extended period of time.     

Clinical characteristics of children with hemolytic uremic syndrome in Hangzhou,China

Background:Hemolytic uremic syndrome (HUS) is a main cause of acute renal failure in children.This study aimed to analyze the clinical characteristics of HUS.Methods:A retrospective analysis was performed in 46 children with sporadic HUS.Results:Of the 46 HUS patients,20 (43.5％) were diarrhea-related HUS,and 26 (56.5％) were atypical HUS.Anemia,edema,oliguria,hemoglobinuria and hypertension were the most common manifestations.Thrombocytopenia,hyponatremia,hypocalcemia,hyperkalemia,metabolic acidosis,increased fibrinogen and hypocomplementemia were found in most patients.The age of onset (younger than 2 years or not,P=0.009),the duration of oliguria or anuria (more than one week or not,P=0.005),accompanied with extrarenal complications or not (P=0.005),dialysis and plasma exchange (P=0.04) were associated with the mortality rate.Conclusion:The age of onset younger than 2 years,oliguria/anuria more than 1 week,and associated with extrarenal complications were predictive factors of poor prognosis.