系统性红斑狼疮并发继发性抗磷脂综合征肾损害11例临床病理分析

目的 分析系统性红斑狼疮（SLE）并发继发性抗磷脂综合征（APS）肾损害的临床病理表现,旨在提高对该类疾病的认识。 方法 回顾性分析北京协和医院2000年至2010年期间确诊SLE并发继发性APS（SLE伴APS）并行肾组织学检查的11例患者的资料,分析其临床病理特点,并比较其和SLE不伴APS患者在肾损害的临床病理及预后上的差异。 结果 11例SLE伴APS患者均有肾脏受累,突出表现为高血压（54.5%）、大量蛋白尿（≥3.5 g/d）（72.7%）和肾功能异常（45.5%）。SLE伴APS患者的舒张压、平均动脉压以及肾小球滤过率（eGFR）均明显高于SLE不伴APS患者（均P < 0.05）。8例（72.7%）SLE伴APS患者存在肾内血管的“血管闭塞性表现”,即符合抗磷脂综合征肾病（APSN）的病理表现,包括肾小血管、肾小球毛细血管血栓形成以及肾小动脉内膜增生、局灶性肾皮质萎缩、肾小管甲状腺样化,其中慢性APSN表现5例（45.5%）,急性APSN表现4例（36.4%）（其中1例同时有急性和慢性表现）;其APSN的发生率以及急性APSN的发生率明显高于SLE不伴APS患者（P < 0.05）。 结论 SLE并发APS肾损害患者除狼疮肾炎外,多并发APSN,临床上高血压和肾功能异常更为突出。     

抗心磷脂抗体定性定量方法在抗磷脂综合征疗效评价中的应用

目的探讨抗磷脂综合征(APS)患者治疗前后的抗心磷脂抗体(ACA)的定性定量水平及其对妊娠结局的影响,比较ACA定量与定性的准确性和灵敏度。方法对我院门诊APS孕妇40例,用定性定量方法监测治疗前后ACA的变化及对治疗后妊娠结局的影响。结果(1)定量方法检测治疗前的ACA-IgG和ACA-IgM滴度分别为(67.63±2.53)U和(49.40±3.64)U;治疗后的ACA-IgG和ACA-IgM滴度分别为(23.87±1.54)U和(21.60±2.59)U,两者比较,治疗后的ACA滴度水平显著低于治疗前水平(P<0.01)。定性方法检测APS孕妇,治疗后ACA转阴率为75%。(2)40例孕妇经治疗均娩出正常新生儿,ACA定量转阴组的妊娠并发症发生率(0.6%)较未转阴组(14.3%)显著降低(P<0.01)。ACA定性定量同时阴性组的妊娠并发症发生率(0.9%)较定性阴性而定量阳性组(7.1%)显著降低(P<0.05)。(3)治疗后30例孕妇ACA定性转阴,但其ACA-IgG和ACA-IgM滴度分别为(27.63±6.05)和(20.13±5.60)U/ml。结论ACA定性与定量均能准确有效的监测ACA水平,反映疗效及预测预后;ACA定量是一种较定性更准确灵敏的诊断监测方法。     

Multiple thromboemboli associated to two occult tumors: a case mimicking catastrophic antiphospholipid syndrome

Thromboembolic events tend to arise during the natural lifetime of tumors. However, multiple thromboemboli mimicking catastrophic antiphospholipid syndrome is quite rare as a first manifestation of a tumor. Herein we describe the case of a 51-year old woman that presented with multiple thromboemboli affecting her brain, lung and kidneys. Despite bolus administration of corticosteroids, anticoagulant therapy and immunoglobulin infusion treatment, the patient died. She had suffered from two occult tumors, which could not be identified premortem: a lung adenocarcinoma and an intrahepatic cholangiocarcinoma. This case underscores the importance of determining the underlying etiology behind multiple thromboemboli. The most important prognostic factor is rapid initiation of treatment of the multiple thromboemboli, emphasizing treatment of their etiology.     

Prevalence of autoantibodies in the course of Gaucher disease type 1: A multicenter study comparing Gaucher disease patients to healthy subjects

Objectives

Type 1 Gaucher disease may be related to the presence of autoantibodies. Their clinical significance is questioned.Primary endpoint was to compare the prevalence of autoantibodies in type 1 Gaucher disease patients with healthy subjects, seeking correlations with autoimmune characteristics. Secondary endpoints were to determine whether patients with autoantibodies reported autoimmunity-related symptoms and if genotype, splenectomy or treatment influenced autoantibodies presence.

长春西汀联合泼尼松治疗原发性肾病综合征疗效观察

目的观察长春西汀联合泼尼松治疗原发性肾病综合征的临床疗效。方法选取原发性肾病综合征患者62例,随机分为观察组和对照组。对照组采用泼尼松及常规治疗,观察组在对照组治疗基础上给予长春西汀注射液静脉滴注,两组疗程均为3周。观察两组患者临床改善情况。结果观察组总有效率（83．9％）明显高于对照组总有效率（61．3％）（P〈0．05）,两组治疗后血浆白蛋白、24h尿蛋白定量与本组治疗前比较有统计学差异（P〈0．05）,观察组较对照组改善更显著（P〈0．05）,观察组尿素氮、血肌酐、活化部分凝血活酶时间、纤维蛋白原、D-二聚体较治疗前明显改善（P〈0．05）,与对照组相比有统计学差异（P〈0．05）。结论长春西汀联合泼尼松治疗原发性肾病综合征安全有效,能有效改善血液高凝状态。     

Central retinal vein occlusion in a patient on hemodialysis secondary to antiphospholipid syndrome: Case report

Central retinal vein occlusion (CRVO) is one of the most common retinal vascular disease. Macular edema associated is responsible of the major decrease in visual acuity. The main causes often implicated are high blood pressure and diabetes. Other etiologies should be sought including CRVO secondary to antiphospholipid syndrome (APS). This rare etiology is associated with a poor prognosis when late diagnosed. Owing to the high associated mortality, early diagnosis and prompt treatment are necessary. We describe a case of APS complicated by a catastrophic antiphospholipid syndrome in a patient who presented a decrease visual acuity.     

Renal artery thrombosis in a pediatric case of systemic lupus erythematosus without antiphospholipid antibodies

A 13-year-old Japanese boy with an 11-month history of systemic lupus erythematosus (SLE) without antiphospholipid antibodies (APAs) suddenly developed severe hypertension, associated with fever and generalized seizures, and mild abdominal pain. Emergency abdominal computed tomography (CT) confirmed left renal artery thrombosis, and a renal scintiscan revealed reduced blood flow to the left kidney. Promptly instituted intravenous anticoagulant therapy was not effective for controlling the infarction-reduced renal arterial blood supply. Moreover, he developed stupor due to central nervous system (CNS) lupus a week after the occurrence of the hypertensive episode. Finally, a percutaneous transluminal angioplasty successfully relieved the occlusion of the left renal artery at its origin. The CNS lupus was also successfully treated with intravenous methylprednisolone pulse therapy combined with intrathecal methotrexate and dexamethasone. Although it is well known that SLE patients with APAs have a high incidence of thrombotic complications, to date, renal artery thrombosis has rarely been reported in young patients. This APA-negative SLE patient unusually manifested renal thrombosis associated with CNS lupus.     

Relationship between antinuclear antibody and microalbuminuria in the general population: the Takahata study

BACKGROUND: Microalbuminuria, a marker of vascular damage, is associated with increased risk of progressive renal deterioration, cardiovascular disease and mortality. However, the relationship between antinuclear antibody (ANA) and microalbuminuria in the general population is unknown. Thus, we conducted a cross-sectional study to examine the relationship between ANA and microalbuminuria. METHODS: The subjects of this community-based study were individuals over 40 years old in Takahata, Japan. The urine albumin-creatinine ratio (UACR) was calculated from a single-spot urine specimen collected in the morning. ANA was examined by enzyme immunoassay (EIA). RESULTS: Among the 2,875 subjects (mean age 63 years; men 1,276; women 1,599), positive ANA (ANA index >or=20.0) was detected in 16.9% of the total population (men 12.9%, women 20.3%) and the prevalence of positive ANA increased with age. The prevalence of microalbuminuria (UACR 30-300 mg/g), but not macroalbuminuria (UACR > 300 mg/g), was significantly higher in the positive ANA group than the negative ANA group (24.1% vs. 16.0%, respectively, P < 0.001). Along with the increase of the ANA index, the prevalence of microalbuminuria and UACR levels were increased. Multivariate logistic regression analyses showed that ANA was significantly associated with microalbuminuria (odds ratio [OR] 1.63 and 95% confidence interval [95%CI] 1.27-2.10). These associations were significant in women, but not men, when examined separately. CONCLUSIONS: These results indicate that the presence of ANA is associated with microalbuminuria in the general population, especially women.     

Hemichorea with antiphospholipid antibodies in a patient with lupus nephritis

Although central nervous system involvement is an important manifestation of systemic lupus erythematosus (SLE), chorea is a relatively uncommon complication. A strong association between chorea and the presence of antiphospholipid antibodies (aPLs) has been reported in patients with SLE, lupus-like disease, or primary antiphospholipid syndrome. We describe a patient with lupus nephritis and cerebral infarction, who subsequently developed recurrent hemichorea associated with increased aPLs levels. A 7-year-old boy suffered from lupus nephritis and a left middle cerebral artery infarction associated with aPLs. He subsequently experienced two episodes of right hemichorea associated with increased aPLs levels without any evidence of further neurological lesions by brain computed tomography or magnetic resonance imaging. The previous left cerebral artery infarction might have increased the susceptibility of the left basal ganglia to the effects of aPLs that contributed to the development of the right hemichorea in this patient.     

吗替麦考酚酯治疗原发性肾病综合征的前瞻性多中心临床研究

目的观察吗替麦考酚酯(MMF)联合激素治疗原发性肾病综合征(PNS)的疗效及安全性。方法采用前瞻性多中心方法,9个中心共47例患者入选。其中初治患者16例,难治性患者31例。用MMF联合激素治疗。MMF起始剂量为1.0～2.0g/d,至少3个月后开始减量,至12个月时维持在0.75～1.0g/d。口服泼尼松起始剂量0.8～1.0mg·kg-1·d-1,根据疗效减量,至6个月时至少减至传统治疗剂量的50%或以下。定期监测蛋白尿等生化指标及副作用。随访期≥6个月。结果47例患者蛋白尿水平从治疗后第2周起明显下降,由治疗前(6.46±3.18)g/d降至治疗后6个月时的(1.45±2.47)g/d(P<0.01),31/47例达到缓解;治疗后12个月时为(0.96±4.17)g/d(P<0.01),23/26例达到缓解。平均缓解时间为(10.89±11.49)周。初治组与难治性NS组均有效(P<0.01),组间差异无显著性意义(P>0.05)。治疗前后Scr无明显改变(P>0.05),血清白蛋白显著上升(P<0.01),血胆固醇水平明显下降(P<0.05)。微小病变组中6个月时有6/8例已达缓解,治疗后12个月时有4/4例仍处于缓解。系膜增生性肾小球肾炎组中治疗后6个月时有8/10例已达缓解,治疗后12个月时有6/7例仍处于缓解。膜性肾病组中治疗后6个月时有4/10例已达缓解,治疗后12个月时有2/4例仍处于缓解。局灶节段性肾小球硬化组中治疗后6个     

Clinical characteristics of primary vesicoureteral reflux in infants: multicenter retrospective study in Japan

PURPOSE: We evaluate clinical characteristics of primary vesicoureteral reflux in infants in a multicenter study in Japan with special reference to the relation of renal parenchymal damage to urinary tract infection and gender. MATERIALS AND METHODS: Infants younger than 1 year old with primary vesicoureteral reflux were recruited from 14 hospitals during the 3-year registration period beginning in January 1996 and ending in December 1998. Various clinical parameters as well as renal parenchymal lesion on dimercaptosuccinic acid scintigraphy were evaluated. RESULTS: Of 356 infants enrolled 296 (83%) were male and 60 (17%) were female. In 85% of infants presenting symptom was febrile urinary tract infection. There were 204 bilateral (57%) and 152 unilateral (43%) cases. Reflux was bilateral in 56% of males versus 65% of females, and high grade (grades IV and V) in 58% of males versus 55% of females. Diffuse parenchymal lesion was similarly noted in infants with or without prior urinary tract infection (38% and 46%, respectively) and was more often noted in male than in female infants (42% versus 25%). CONCLUSIONS: Despite the current use of screening prenatal ultrasound, many infants are still diagnosed as having vesicoureteral reflux only after the occurrence of urinary tract infection. The greater severity of renal parenchymal lesion in male infants combined with similar incidence of diffuse parenchymal lesion in those with or without prior infection suggests preexisting congenital abnormalities in the male refluxing kidney.     

Aortic valve replacement for aortic regurgitation in a patient with antiphospholipid antibody syndrome

Cardiac manifestations of antiphospholipid antibody syndrome (APLS) comprise a major complication. Herein we report our surgical treatment of aortic regurgitation in a patient with APLS. A 61-year-old woman was referred to our hospital with symptoms of congestive heart failure. Systemic lupus erythematosus had been diagnosed at the age of 36, and immunosuppressive therapy has been continuously performed. APLS was also diagnosed at the age of 55, after which cardiomegaly was noted on chest radiographs and aortic regurgitation was evident on echocardiography. Although immunosuppressive therapy had been continued, cardiac symptoms began to develop. With a presumed diagnosis of valvular disease associated with autoimmune disease, the aortic valve was replaced with a bioprosthesis. Noninfective endocarditis was confirmed in the excised specimen and was likely involved in APLS. The patient was discharged on postoperative day 26 without complications.     

No association between Alport's syndrome and antithyroid antibodies.

The presence of circulating antithyroid antibodies in a small number of patients with Alport's syndrome has led some to suggest that the two abnormalities are associated. If confirmed, such an association could have important diagnostic as well as pathophysiological implications. Using sensitive methods, we assessed the prevalence of antithyroid antibodies in 40 patients with Alport's syndrome from 28 families. Antithyroglobulin antibodies were absent in all patients. Antimicrosomal and antithyroperoxidase antibodies were absent in all but one patient. Three patients with Alport's syndrome from the latter family were negative for antithyroid antibodies. In this large number of patients we found no association between Alport's syndrome and antithyroid antibodies. Screening for the presence of such antibodies in patients with Alport's syndrome is thus not warranted. The previously reported coexistence of the two disorders might be fortuitous.     

Liver transplantation for Budd-Chiari syndrome: A retrospective study

A retrospective study was performed on 11 patients who underwent orthotopic liver transplantation for Budd-Chiari syndrome (BCS), 3 of whom had fulminant type BCS and 8, chronic type BCS. Both the 3- and 5-year actuarial survival rates were 64%, after one patient with fulminant, and three with chronic disease died of sepsis or multiple organ failure following transplantation. Anticoagulation therapy in the early postoperative period was tailored to each individual patient. Most of the patients received heparin for several days and were then converted to Coumadin therapy, although some were not given heparin in the immediate postoperative period but were instead commenced on oral Coumadin after the prothrombin time had recovered to wihtin the normal range. All the long-term survivors had received Coumadin therapy and there was no recurrence of BCS and no early thrombotic or hemorrhagic event. One patient developed late thrombosis of the portal vein despite having received apparently adequate Coumadin therapy. It was thus concluded that liver transplantation is an effective therapy for both fulminant and chronic BCS, and that immediate postoperative heparinization is not mandatory for all patients.     

Devastating intracardiac and aortic thrombosis: a case report of apparent catastrophic antiphospholipid syndrome during liver transplantation

Fewer than 80 cases of intracardiac thrombosis and intraoperative pulmonary thromboembolism during liver transplantation have been described. We present a patient who suffered an intraoperative fulminant intracardiac and aortic thrombosis and posthumously was found to have had high anticardiolipin immunoglobulin M concentration and markers of hyperfibrinolysis in preoperatively collected plasma. Hemostatic therapy in the presence of circulating antiphospholipid antibodies and the pathogenesis of a catastrophic antiphospholipid syndrome are discussed.     

狼疮肾炎合并抗磷脂抗体综合征的中西医结合诊疗

抗磷脂抗体综合征(APS)是系统性红斑狼疮(SLE)常见继发病症。以循环中出现抗磷脂抗体、血栓形成和病态妊娠为特征性表现。合并APS的狼疮肾炎(LN)患者易出现更多并发症,预后较差,对治疗的敏感性降低。抗凝和(或)抗血小板是治疗LN合并APS的关键,血浆置换则对重症APS患者有一定疗效。近年来,新型药物与治疗方法如利伐沙班、美罗华及干细胞移植展现出了巨大的治疗潜力。中西医结合治疗是另一种极有希望的治疗方法,多位中医大家均认为活血化瘀法可有效治疗LN合并APS患者。现代临床与药理研究也发现了中药治疗LN合并APS的价值。