Gilbert syndrome (GS) is a hereditary unconjugated hyperbilirubinemia that results from mutations in the bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1) gene. To the best of our knowledge, there are currently no reports that focus on patients with systemic lupus erythematosus (SLE) coexisting with GS. The present study aimed to evaluate the clinical characteristics and genotype of UGT1A1 in a Chinese patient with SLE and GS. Complete medical records and laboratory data were reviewed for a patient with SLE referred to Ruijin Hospital (Shanghai, China) for treatment between March 2016 and January 2020. Genetic analysis of the UGT1A1 gene was performed by PCR amplification and Sanger sequencing. The serum total bilirubin and unconjugated bilirubin concentrations on admission were 96.2 and 86.8 µmol/l, respectively. The homozygous mutation c.1456T>G (p.Y486D) in exon 5 was detected in this patient. The patient had a good response to phenobarbital orally at a dose of 30 mg/day and a decrease in serum bilirubin was observed. Elevated unconjugated hyperbilirubinemia in SLE needs to be differentiated from other diseases, such as GS, which can be diagnosed by UGT1A1 genetic sequencing.

Objective Anti-DFS70 antibodies correlating with the nuclear dense fine speckled (DFS) pattern in the HEp-2 indirect immunofluorescence assay (IFA) are less common in patients with systemic autoimmune rheumatic disease (SARD) than in healthy subjects and their clinical associations remain elusive. We hosted a multi-center HEp-2 IFA training program to improve the ability of clinical laboratories to recognize the DFS pattern and to investigate the prevalence and relevance of anti-DFS70 antibodies. Methods DFS pattern sera identified by HEp-2 IFA in 29 centers in China were redirected to a central laboratory for anti-DFS70 testing by line immunoblot assay (LIA), enzyme-linked immunosorbent assay (ELISA), and IFA with HEp-2 ELITE/DFS70-KO substrate. Anti-extractable nuclear antigen antibodies were measured by LIA and the clinical relevance was examined in adult and pediatric patients. Results HEp-2 IFA positive rate and DFS pattern in positive sera were 36.2% (34,417/95,131) and 1.7% (582/34,417) in the patient cohort, and 10.0% (423/4,234) and 7.8% (33/423) in a healthy population, respectively. Anti-DFS70 prevalence among sera presenting the DFS pattern was 96.0, 93.7, and 49.6% by ELISA, LIA, and HEp-2 ELITE, respectively. 15.5% (52/336) of adult and 50.0% (20/40) of pediatric anti-DFS70 positive patients were diagnosed with SARD. Diseases most common in anti-DFS70 positive patients were spontaneous abortion (28.0%) in adults and juvenile idiopathic arthritis (22.5%) in pediatric patients. Conclusion Accurate DFS pattern identification increased the detection rate of anti-DFS70 antibodies by ELISA and LIA. Anti-DFS70 antibodies are remarkably high in cases of spontaneous abortion and in pediatric SARD patients, but not prevalent in adult SARD patients.

BACKGROUND:Thromboelastography (TEG) can reflect the coagulation status in vivo, from clot formation to clot lysis. In the present study, we aimed to evaluate the function of TEG in detecting coagulation in patients with SLE and sought to explore the correlation between clinical and laboratory data.METHODS:A total of 41 patients with new-onset SLE who had not undergone treatment and 56 healthy controls were included. TEG and other laboratory tests were performed, and clinical data were collected.RESULTS:A significant difference in the TEG reaction time and TEG achievement of clot firmness was observed between the groups. Moreover, these parameters were correlated with the lupus anticoagulant levels, platelet count, 24-hour urinary total protein quantity, and systemic lupus erythematosus disease activity index.CONCLUSION:Our study demonstrated the prospective value of TEG in evaluating hypercoagulability in patients with SLE.

Abstract Background: The aim of the study was to determine the prevalence and clinical associations of antiphosphatidylserine/prothrombin antibodies (aPS/PT) with thrombosis and pregnancy loss in Chinese patients with antiphospholipid syndrome (APS) and seronegative APS (SNAPS). Methods: One hundred and eighty six Chinese patients with APS (67 primary, 119 secondary), 48 with SNAPS, 176 disease controls (79 systemic lupus erythematosus [SLE], 29 Sjogren’s syndrome [SS], 30 ankylosing spondylitis [AS], 38 rheumatoid arthritis [RA]) and 90 healthy donors were examined. IgG and IgM aPS/PT, IgG/IgM/IgA anticardiolipin (aCL) and IgG/IgM/IgA anti-β2-glycoprotein I (anti-β2GPI) antibodies were tested by ELISA. Results: One hundred and sixty (86.0%) of APS patients were positive for at least one aPS/PT isotype. One hundred and thirty five (72.6%) were positive for IgG aPS/PT, 124/186 (66.7%) positive for IgM aPS/PT and 99 (53.2%) positive for both. Approximately half of the SNAPS patients were positive for IgG and/or IgM aPS/PT. Highly significant associations between IgG aPS/PT and venous thrombotic events (odds ratio [OR]=6.72) and IgG/IgM aPS/PT and pregnancy loss (OR=9.44) were found. Levels of IgM aPS/PT were significantly different in APS patients with thrombotic manifestations and those with fetal loss (p=0.014). The association between IgG/IgM aPS/PT and lupus anticoagulant (LAC) was highly significant (p<0.001). When both were positive, the OR for APS was 101.6. Notably, 91.95% (80/87) of LAC-positive specimens were positive for IgG and/or IgM aPS/PT, suggesting aPS/PT is an effective option when LAC testing is not available. Conclusions: Anti-PS/PT antibody assays demonstrated high diagnostic performance for Chinese patients with APS, detected some APS patients negative for criteria markers and may serve as potential risk predictors for venous thrombosis and obstetric complications.

目的·研究抗磷脂酰丝氨酸/凝血酶原复合物抗体(anti-phosphatidylserine/prothrombin antibody,aPS/PT)、IgA型抗心磷脂抗体(anti-cardiolipin antibody,aCL)及IgA型抗β2糖蛋白1抗体(anti-β2-glycoprotein Ⅰ antibody,aβ2-GPI)对血清阴性抗磷脂综合征(seronegative antiphospholipid,SNAPS)的诊断价值.方法·选取86例抗磷脂综合征(antiphospholipid,APS)患者(APS组)、48例SNAPS患者(SNAPS组)、79例系统性红斑狼疮(systemic lupus erythematosus,SLE)患者(SLE组)和85例健康者(健康对照组),应用ELISA法测定IgG型和IgM型aPS/PT、IgA型aCL和IgA型aβ2-GPI 4种抗磷脂抗体.计算这4种抗体用于诊断SNAPS的敏感度及特异度,并做受试者工作特征(ROC)曲线,以及分析4种抗体与SNAPS临床表现的相关性.结果·SNAPS组aPS/PT总检出率为52.1％,其中IgG型aPS/PT检出率为29.2％,IgM型aPS/PT检出率为35.4％,IgA型aβ2-GPI检出率为16.7％,IgA型aCL未检出;SNAPS组IgG型和IgM型aPS/PT,以及IgA型aβ2-GPI检出率显著高于健康对照组(均P=0.000).IgG型aPS/PT用于诊断SNAPS的ROC曲线下面积最大,其次为IgA型aβ2-GPI,分别为0.753和0.725.IgG型aPS/PT (OR=5.54,95％ CI1.67～ 17.33,P=0.003)和IgA型aβ32-GPI (OR=3.43,95％ CI 0.86 ～ 11.53,P=0.041)与静脉血栓风险均呈正相关,IgM型aPS/PT与妊娠丢失风险正相关(OR=5.11,95％ CI 1.31 ～ 21.29,P=0.004).结论·IgG/IgM型aPS/PT和IgA型aβ2-GPI可作为SNAPS实验室诊断潜在的补充指标,IgG/IgM型aPS/PT对于临床评估SNAPS患者血栓形成和妊娠丢失的风险也有一定的应用价值.

目的:采用酶联免疫吸附试验(enzyme-linked immunosorbent assay,ELISA),观察抗双链DNA (double-stranded DNA,dsDNA)IgG抗体在系统性红斑狼疮(systemic lupus erythematosus,SLE)患者和非SLE患者中的分布特点,并评估ELISA法联合绿蝇短膜虫间接免疫荧光试验(crithidia luciliae immunofluorescence test,CLIFT)检测抗dsDNA-IgG抗体用于SLE诊断的效能.方法:收集上海交通大学医学院附属瑞金医院检测抗dsDNA-IgG抗体的住院患者的临床资料,共4 726例采用ELISA法,其中830例同时采用CLIFT检测,用受试者工作特征曲线(receiver operating characteristic curve,ROC)分析2种检测方法辅助诊断SLE的效能.结果:采用ELISA法检测的4 726例住院患者中,dsDNA抗体阳性者398例,其中SLE183例,占dsDNA阳性者46.0％,非SLE疾病依次为肝脏疾病(28.4％)、其他结缔组织病(7.5％)、血液系统疾病(5.3％)及呼吸系统疾病(3.8％);830例采用CLIFT检测ds DNA,134例结果显示为dsDNA抗体阳性的患者中,其中SLE者占94.0％,另有非SLE诊断病例包括自身免疫性肝病3例,肝硬化、肾炎、银屑病和抗磷脂综合征各1例.830例完成ELISA法与CLIFT双检测的患者中,SLE患者共197例,非SLE患者633例,ELISA法检测灵敏度为74.6％,特异度仅为92.9％;而CLIFT法测dsDNA抗体具有较高的特异度,为98.7％,灵敏度为64.0％.联合2种方法平行检测dsDNA抗体可明显提高SLE的诊断效能,ROC曲线下面积最高(0.869 0).结论:单独应用ELISA法时,应警惕假阳性较高,需排除其他非SLE疾病的诊断;联合使用ELISA法和CLIFF法检测抗dsDNA抗体可较单独应用CLIFT法明显提高SLE的诊断效能,二者联合平行检测结果为阴性,用于排除SLE更有意义.

目的:分析常见肾脏疾病血清IgG4含量,探究血清IgG4与肾小管间质病变及其他实验室指标之间的关系.方法:收集485例不同肾脏疾病患者临床、实验室及病理(光学显微镜、免疫荧光、电子显微镜)资料,血清IgG4检测采用免疫散射比浊法.结果:485例不同肾脏疾病患者中30例患者血清IgG4＞2 g/L,间质性肾炎和抗中性粒细胞胞质抗体(ANCA)相关性小血管炎患者血清IgG4升高比例较高,分别为24.0％和22.4％,明显高于其他肾脏疾病.间质性肾炎患者血清IgG4与血清IgA及24 h尿α1微球蛋白(α1-MG)、24 h尿白蛋白(Alb)和24 h尿IgG呈正相关关系(r=0.64,r=0.43,r=0.46,r=0.46;均P＜0.05),ANCA相关性小血管炎和IgA肾病血清IgG4与血清IgE呈正相关关系(r=0.39,r=0.34;均P＜0.05),膜性肾病血清IgG4与血清IgG呈正相关关系(r=0.47,P＜0.05),狼疮性肾炎血清IgG4与血清IgG和IgA呈正相关关系(r=0.65,r=0.37;均P＜0.05).在254例肾脏穿刺患者中肾间质重度炎性细胞浸润组血清IgG4明显高于无或轻度肾间质炎性细胞浸润组(P＜0.05).52例原发性膜性肾病患者肾小球IgG4阳性率为100％,与血清IgG4水平无明显相关性.结论:间质性肾炎和ANCA相关性小血管炎高IgG4血症发生率高,血清IgG4升高肾病患者应首先考虑这2种疾病可能,而确诊需结合血清学、病理和影像学检测结果,IgG4在肾脏疾病中的致病机制仍需进一步研究.

Objective To study the quality of life and influencing factors in patients with compensatory cirrhosis.Methods Thirty-two patients with compensatory cirrhosis and 39 healthy subjects were studied with 36-ItemsShort Form Health Survey Questionaire(SF-36).The influencing factors of quality of life were analyzed by descriptive analysis and multiple logistic regression analysis.Results The score of SF-36 in patients with compensatory cirrhosis was lower than that in healthy subjects.Multiple logistic regression analysis indicated that course of disease,inflammation grade of liver tissue,level of platelet,age and level of HBV DNA had significant correlation with SF-36 score in patients with compensatory cirrhosis(P<0.05),however,body mass index,alanine aminotransferase,and fibrosis stage of liver tissue have no correlation with SF-36 score.Conclusions SF-36 score in compensatory cirrhosis patients is lower than that in healthy subjects.On the basis of routine treatment,effective intervention should be taken to improve the living quality of patients.

目的:检测系统性红斑狼疮(SLE)患者外周血基质金属蛋白酶(MMP)-2、MMP-3、MMP-9和基质金属蛋白酶组织型抑制因子(TIMP)-4的水平,并探讨其临床意义.方法:采用双抗夹心ELISA法,检测58例SLE患者及30例正常对照者的血清MMP-2、MMP-3、MMP-9和TIMP-4水平.结果:SLE患者血清MMP-3、TIMP-4水平显著高于正常对照者,但其血清MMP-2、MMP-9水平则与正常对照者间无统计学差异.SLE患者的血清MMP-3水平与MMP-2、MMP-9、TIMP-4水平均呈正相关,MMP-9水平与MMP-2水平间亦呈正相关；同时其MMP-2、MMP-3、MMP-9水平与反映肾脏、肝脏及机体免疫状态的多组指标间存在相关性,包括尿素氮、肌酐、尿酸、白蛋白、免疫球蛋白G、免疫球蛋白A、免疫球蛋白M、补体C3和补体C4等;SLE患者中,发生血小板减少者的血清MMP-2、MMP-9水平与血小板正常者相比显著降低.结论:SLE患者外周血MMP-3和TIMP-4水平显著升高.不同MMP间可相互调节,同时也受TIMP-4等TIMP的调节.MMP-2、MMP-3和MMP-9可能参与了SLE患者肾脏和肝脏的病理损害过程.

作者采用一种新的血小板计数方法--血涂片法计数血小板[1],与血液分析仪法及相差显微镜血小板计数进行比较.结果显示,血涂片法血小板计数是一种值得推广的准确快速复核仪器计数血小板结果的好方法.

Objective To investigate the cell immunity in eosinophilia patients. Methods 100 patients' venous blood in which eosinophil was over 5% and 145 patients' venous blood in which monocyte was over 8% were analyzed the Ag-NORs expression of the lymphocytes by a KL imaging system. Results The Ag-NORs expression of the T lymphocytes in eosinophilia was higher than that in controls. Conclusions The cell immunity in eosinophilia is enhanced, which can be screened throngh automated hematology analyser.