A case of severe preeclampsia diagnosed as post-partum hemolytic uremic syndrome

Post-partum hemolytic uremic syndrome (PHUS) is a severe thrombotic microangiopathy clinically characterized by hemolytic anemia, renal dysfunction, and low platelets after birth with rapid progression and poor prognosis. Here, we reported a rare case of severe preeclampsia diagnosed as hemolytic uremic syndrome after birth. The patient was diagnosed with PHUS and underwent intermittent plasma exchange with supportive treatment including glucocorticoid injections and transfusion of suspended red blood cells. After these treatments, the patient experienced no apparent remission and chronic renal dysfunction occurred on her. PHUS is a severe emergency with acute onset, rapid progress, and poor prognosis. Early detection, diagnosis, and treatment can significantly improve the prognosis.

     

小儿溶血尿毒综合征诊治探讨（附7例报告）

目的探讨小儿溶血尿毒综合征（HUS）的临床特点、诊疗经验及预后。方法回顾性分析7例HUS病儿的临床资料。结果7例HUS病儿表现为不同程度的溶血性贫血、血小板减少及急性。肾衰竭,急性期采取对症治疗为主的综合治疗措施,6例痊愈或好转出院,1例于急性期放弃治疗。结论早期诊断和采取及时有效的综合治疗方案是改善HUS预后的关键。     

普通变异型免疫球蛋白缺乏症5例并文献复习

目的旨在提高对临床表现各异的普通变异型免疫球蛋白缺乏症(common variable im-munodeficiency,CVID)的认识,以减少临床漏诊和误诊率。方法回顾我院5例CVID患者的诊治经过,并对该病的发病机制、免疫学改变和临床诊治等研究进展进行文献复习。结果5例患者分别以伴或不伴有发热、消化道、呼吸道症状就诊,最终检测免疫球蛋白明显降低而确诊,予丙种球蛋白及相应抗感染治疗后好转出院。结论CVID为原发性免疫缺陷病的一种,成年人发病多见,临床以反复感染为主要特征,尤以消化系统、呼吸系统为突出表现,可伴有自身免疫病和恶性肿瘤,血清免疫球蛋白明显减低有助于确诊。治疗上采取丙种球蛋白替代治疗。     

产后溶血性尿毒症综合征研究进展

产后溶血性尿毒症综合征是指产后以急性微血管病性溶血性贫血、血小板减少及急性肾衰竭三大特征为主的综合征。本病发病急、进展快。其病因与妊娠期凝血功能异常、分娩中使用缩宫素及麦角生物碱,并与遗传、免疫及感染等因素有关。其发病机制是肾脏局部的微血管病性溶血及血管内凝血。目前尚无特效治疗方法,早期采用血浆置换、腹膜透析,以及大剂量皮质激素应用等综合治疗,改善患者预后。     

普通变异型免疫缺陷病合并肝硬化1例并文献复习

目的:讨论普通变异型免疫缺陷病(common variable immunodeficiency disease,CVID)的发病机制、临床表现及治疗方法。方法:报道1例普通变异型免疫缺陷病合并肝硬化患者并复习相关文献。结果:普通变异型免疫缺陷病是临床少见病,易误诊,病因不清,临床表现复杂,部分患者病程中可出现肝功能异常,甚至并发肝硬化。结论:临床反复感染的患者应考虑CVID的可能,须进一步作血浆免疫球蛋白的检测确诊。对已经确诊患者定期补充静脉丙种球蛋白,同时还应定期检查肝功能。     

成人不典型溶血尿毒综合征临床分析及诊治体会

目的 探讨成人不典型溶血尿毒综合征的临床特点及诊治经验.方法 回顾性分析2005～2011年我院诊断成人不典型溶血尿毒综合征患者共5例,总结分析其临床表现、辅助检查、治疗方法及疗效.结果 5例患者中,治愈2例,死亡1例,遗留肾功能不全2例,其中1例最终走向透析,1例肾功能长期保持稳定.其中,与妊娠相关者共3例.早期血浆置换可有效控制病情,改善预后,糖皮质激素的效果尚不确定.肾脏病理改变是估计预后的重要指标.以小动脉改变为主的预后差.结论 成人不典型溶血尿毒综合征病因多样、预后较差.早期诊断、早期治疗是改善预后的关键因素.     

Light and scanning electron microscopic examination of hair in Griscelli syndrome

Griscelli syndrome is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency, and an acute phase of uncontrolled T-lymphocyte, and macrophage activation. Griscelli et al described this syndrome in 1978. Since then, only in approximately 60 cases have been reported, most from the Turkish, and Mediterranean population. In microscopic examination, silvery gray hair with large, clumped melanosomes on the hair shaft is the diagnostic finding. Here, we present scanning electron microscopic study of hair in 2 cases of Griscelli syndrome, where the hair showed normal cuticular pattern but nodular structures were present as an abnormal findings.     

Cardiorenal syndrome: pathophysiological mechanism, preclinical models, novel contributors and potential therapies

Objective To review the current knowledge about the pathophysiological mechanisms,preclinical models,novel contributors and potential therapies of cardiorenal syndrome.Data sources The literature concerning cardioranal syndrome in this review was collected from PubMed published in English up to January 2014.Study selection Original articles and critical reviews related to cardiorenal syndrome were selected and carefully analyzed.Results Cardiorenal syndrome is a condition characterized by kidney and heart failure where failure of one organ worsens the function of the other thus further accelerating the progressive failure of both organs.The pathophysiology of cardiorenal syndrome is not fully understood,but may be caused by a complex combination of neurohormonal system activation,endothelial dysfunction,proteinuria,oxidative stress,uremic toxins and other factors.Managing cardiorenal syndrome is still a major therapeutic challenge in clinical practice because many of the drugs used to control heart failure can worsen renal function,and vice versa.Non-dialyzable uremic toxins,such as indoxyl sulfate,causing detrimental effects on the heart and kidney as well as stimulation of inflammatory responses,may be an effective therapeutic target for cardiorenal syndrome.Conclusions Suitable disease models of cardiorenal syndrome are urgently needed to investigate the pathophysiology and effective therapeutic approaches to the condition.Non-dialyzable protein-bound uremic toxins that may have cardiac and renal effects may provide therapeutic benefit to cardiorenal syndrome patients.     

Thrombotic thrombocytopenic purpura following cardiovascular surgery: a case report

Thrombotic thrombocytopenic purpura, a rare clinical syndrome characterized by thrombocytopenia and microangiopathic hemolytic anemia, was almost uniformly fatal until the introduction of plasma exchange in 1970. The thrombotic thrombocytopenic purpura following cardiovascular surgeries is relatively a new entity with high mortality if untreated. Plasma exchange is the most important therapy in this disease with good clinical outcomes. With the addition of this report, there are now 13 cases of thrombotic thrombocytopenic purpura in association with coronary artery bypass graft reported in the literature.     

新型STAT3基因突变致普通变异性免疫缺陷综合征一例报道及文献复习

普通变异性免疫缺陷综合征（CVID）是临床常见的一种以低免疫球蛋白血症、反复细菌感染、T淋巴细胞或B淋巴细胞功能障碍为主要特征的异质性免疫缺陷综合征,大多数患者表现为多基因和多因子病因学特征,但少数患者发现单个基因的致病性突变,其中STAT3基因是新型CVID突变基因之一。本文报道1例以慢性腹泻为主要临床表现伴有STAT3基因突变的CVID婴儿的临床特征及诊治过程,通过本例分析结合相关文献复习,对STAT3基因突变相关的CVID发病、诊断、治疗、预后进行分析总结,以提高临床医生对该基因突变导致CVID的认识水平。     

糖皮质激素治疗儿童非腹泻相关溶血尿毒综合征的疗效评价

目的：探讨应用糖皮质激素治疗儿童非腹泻相关溶血尿毒综合征（HUS）临床症状改善的时间,评估其疗效。方法：选择22例非腹泻相关HUS患儿作为研究对象。根据患儿急性期在使用血浆的同时是否联合使用糖皮质激素,将患儿分为单纯血浆治疗组（n=11）和血浆联合糖皮质激素治疗组（n=11）,分析2组患儿平均住院时间、尿色转清时间、血小板及血肌酐恢复正常水平的时间,并收集2组患儿出院后的临床资料,根据随访结果评估2组患儿的预后。结果：与单纯血浆治疗组比较,血浆联合糖皮质激素治疗组患儿平均住院时间、尿色转清时间和血肌酐恢复正常水平时间均缩短,但差异无统计学意义（P>0.05）。2组患儿血小板升至正常水平时间比较差异无统计学意义（P>0.05）。单纯血浆治疗组有10例患儿顺利完成随访,其中1例患儿遗留高血压后遗症,1例患儿在出院1年后病情复发;血浆联合糖皮质激素治疗组9例患儿顺利完成随访,其中1例患儿持续尿检异常,并遗留听力受损,生长发育较同龄儿缓慢,其余随访患儿达到临床治愈标准。单纯血浆治疗组临床治愈率为80.0%,血浆联合糖皮质激素治疗组临床治愈率为88.9%,组间临床治愈率比较差异无统计学意义（P>0.05）。结论：在儿童非腹泻相关HUS的急性期使用糖皮质激素并不能缩短患儿的急性期病程,也不能改善患儿的预后。     

小儿重型溶血尿毒综合征诊治研究

目的探讨影响重型溶血尿毒综合征(HUS)的预后因素,并评价治疗方法。方法分析10例重型HUS患儿临床资料,采用血浆置换加连续血液净化等综合治疗措施。结果本组病例急性期均存活,溶血控制,肾及其他各脏器功能大多恢复正常。随访时间3个月至10年,血压、尿素氮(BUN)、肌酐(CRE)恢复正常8例,尿常规正常7例,尿常规轻度异常3例;反复发生溶血并急性肾功能衰竭3例,经积极治疗溶血控制,BUN、CRE均恢复正常;尿液检查正常1例,轻度蛋白尿、血尿1例,发展为慢性肾功能不全1例。结论影响预后的主要因素为急性期病情轻重及是否早期采用以血浆置换加血液净化为主等综合治疗措施。     

Granulomatous enteropathy in common variable immunodeficiency: a cause of chronic diarrhoea.

Gastrointestinal disease is a well recognized feature in patients with common variable immunodeficiency, and is often due to infection with a variety of organisms. Symptoms usually improve with appropriate antibiotic therapy and replacement gammaglobulin. We describe three middle-aged female patients with common variable immunodeficiency who had protracted diarrhoea and weight loss. Despite extensive investigation no infectious cause was found. All patients had granulomas distributed throughout the gastrointestinal tract, but no features of inflammatory bowel disease. There was a poor response to gammaglobulin replacement therapy, antibiotics or symptomatic treatment. We suggest that granulomatous enteropathy is another gastrointestinal manifestation of common variable immunodeficiency.     

下生殖道感染的治疗与母婴结局

围生期生殖道感染是生育期妇女最常见的疾病,这里主要是指下生殖道感染,以B组溶血性链球菌、支原体、衣原体及细菌性阴道病多见。病因是正常生殖道乳酸杆菌数量的减少,致病菌群失调,导致临床一系列综合征。为了进一步了解妊娠期病原微生物感染的方式及途径,掌握孕妇下生殖道病原微生物与母婴结局的相关性,现对近年国内外围生期下生殖道感染的常见病原微生物的治疗和所致母婴结局的相关文献进行综述。     

孕产妇并发急性弥漫性血管内凝血26例临床分析

目的　分析孕产妇发生急性弥漫性血管内凝血的病种构成特点和影响预后的因素。方法　对 11年来 2 6例孕产妇并发DIC患者进行回顾性分析。结果　羊水栓塞 12例 (46 .15 % ) ,重度妊高征 4例 (15 .38% ) ,胎盘早剥、产后出血各 2例 (各占 7.6 9% ) ,子宫破裂、HELLP综合征、子宫内感染、妊娠晚期急性脂肪肝、大量库血输入、产后溶血性尿毒症各 1例 (各占 3.84 % )。 2 6例中死亡 5例 ,病死率为19 .2 3%。结论　注重原发病预防和治疗、早期祛除DIC病因是治疗成功的关键。     

易被忽视的肾衰竭病因——附80例分析

对1998年1月至2007年6月我科收治80例易被忽视病因的肾衰竭患者的临床资料进行回顾性分析,结果示急性肾衰竭66例,其中横纹肌溶解症45例,肿瘤15例,抗中性粒细胞胞浆抗体相关性小血管炎2例,感染性心内膜炎2例,溶血尿毒症综合征2例。慢性肾衰竭14例,其中原发性甲状腺功能减退症3例,多发性骨髓瘤4例,淀粉样变性2例,止痛剂肾病3例,肾结核2例。     

Characteristic magnetic resonance imaging for neurological assessment in HELLP syndrome with eclampsia: a case report

HELLP syndrome is a complication of pregnancy characterized by hemolytic anemia, elevated liver enzymes, and low platelets. We describe a patient who suffered a generalized tonic seizure as a clinical onset. Magnetic resonance imaging (MRI) of the brain showed high intensity lesions on T2-weighted images and low- and iso- intensity on T1-weighed images. The patient fully recovered and on follow-up MRI the abnormal lesions were almost totally resolved. The sensitivity and specificity of MRI is useful in distinguishing this complication of pregnancy from cerebral apoplexy, brain tumor, epilepsy and other causes.     

Good综合征10例临床分析

目的 探讨Good综合征(GS)的临床病理特点、诊断和治疗方案的选择.方法 回顾性分析北京协和医院2000年1月至2011年1月期间收住院治疗的10例GS患者的临床资料,对其临床表现、辅助检查、治疗及转归情况进行总结分析.结果 10例患者中男3例,女7例,发病年龄平均(49±11)岁.以肺部感染(6例)、腹泻(4例)、神经系统受累(4例)及多关节痛(3例)为主要临床表现.10例患者均有低免疫球蛋白血症和淋巴细胞亚群异常,影像学检查示所有患者均存在胸腺瘤.胸腺瘤切除术后无明显疗效,静脉输注丙种球蛋白(IVIG)治疗有效.8例患者得到随访,其中4例死亡,肺部感染和中枢神经系统受累为主要死亡原因;4例患者定期接受IVIG治疗,临床症状好转.结论 GS好发于中老年人,临床表现缺乏特异性,胸腺瘤合并免疫缺陷为其主要特征.定期行丙种球蛋白替代治疗是目前改善患者临床症状,降低患者死亡率的最有效方法,但由于多数患者未能及时定期接受IVIG治疗,预后较差.

Abstract：

Objective To summarize the clinical characteristics of Good's syndrome so as to standardize its diagnostic and therapeutic strategy. Methods Ten cases of Good's syndrome treated at our hospital from January 2000 to January 2011 were analyzed retrospectively. Their clinical manifestations,accessory examinations, treatment and prognosis were evaluated. Results There were 3 males and 7 females with an average age of (49 ± 11) years old. Their major symptoms were pulmonary infection (n = 6), diarrhea (n =4), involvement of central nervous system (CNS) (n=4) and polyarticular pain (n = 3). Hypogammaglobulinaemia and abnormal subsets of lymphocytes were the most common laboratory changes. Besides imaging studies revealed that all of them were diagnosed as thymoma. No significant efficacy was observed after thymoma resection. Clinical improvements were demonstrated after the treatment with regular intravenously administered immunoglobulin (IVIG) in 4 of them. Eight patients were followed up. Four of them died from pulmonary infection and involvement of CNS. Conclusion As a rare disease in adults, Good's syndrome is characterized by thymoma associated with immunodeficiency and a lack of specific clinical manifestations. IVIG at regular intervals is the most effective way of improving the clinical symptoms and reducing the patient mortality. However, the prognosis remains poor since most patients fail to receive a regular therapy of IVIG.     

Pulmonary complications of AIDS: a clinical strategy.

Infectious and noninfectious forms of pulmonary disease are the most common complications of acquired immune deficiency syndrome (AIDS), and many are amenable to treatment. We describe the clinical and radiologic features of the most common causes of lung disease in AIDS patients and review the drugs available for treatment. In addition, we provide a strategy for the clinical assessment and management of patients with human immunodeficiency virus infection who have lung infiltrates.     

Treatment of meningioma in a patient with congenital immunodeficiency disorder

We treated a patient with meningioma suffering from a congenital immunodeficiency syndrome. The patient was diagnosed with common variable immunodeficiency (CVID) in youth, and had suffered from repeated infections, especially in the respiratory tract, requiring continuous treatment with antibiotics. Imaging revealed a tumor located in the left frontal region with a broad attachment suggesting meningioma in the convexity dura mater. Gammaglobulin was infused intravenously preceding the operation and serum gammaglobulin was controlled at over 400 mg/dl and then a Simpson grade 1 operation was performed. The patient did not show any complications in infectious susceptibility, and there was no recurrence of the tumor in the 5 years following the operation. The surgical risk for CVID patients in the neurosurgical field is still not clear, but we could maintain the condition of the patient by controlling the serum gammaglobulin level in the perioperative period.