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Objective:To investigate the distribution and clinical significance of subtypes of antimitochondrial antibodies (AMA)-M2, M4, M9 in primary biliary cholangitis (PBC).Methods:A total of 1 367 patients were detected with AMA-M2, M4, M9 in Peking Union Medical College Hospital (PUMCH) from Jan 2014 to Dec 2019 and the clinical parameters were collected. The distribution patterns of AMA subtypes in different groups were analyzed and the diagnostic sensitivity and specificity of AMA subtypes in PBC were calculated. Chi-square test was used for statistical analysis.Results:In 1 367 patients, 236 of whom were positive for AMA subtypes. The positivity of AMA subtypes in female was significantly higher than in male (20.34% vs 9.41%, χ2=23.792, P<0.01). In addition, the positivity of AMA subtypes was significantly higher in 30-65 years old patients than in patients younger than 30 years old or older than 65 years old [(20.00%(193/965) vs 10.97%(17/155) vs 10.53%(26/247), χ2=17.209, P<0.01]. 110 patients with positive AMA subtypes were diagnosed with PBC. The diagnostic sensitivity and specificity of AMA-M2 were both desirable [94.64%(106/112) and 92.35%(1 159/1 255)]. Although the specificity of AMA-M4 was as high as 99.12%(1 244/1 255), its sensitivity was very low [15.18%(17/122)]. Combined detection of different AMA subtypes could not improve the diagnostic sensitivity and specificity significantly. Diseases other than PBC can be positive for AMA subtypes, predominantly for AMA-M2. Conclusion:Female and 30-65 years old patients were more frequently positive for AMA subtypes. AMA-M2 was the most valuable AMA subtype for diagnosing PBC.
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ObjectiveTo investigate the clinical and laboratory characteristics of systemic sclerosis (SSc) patients with digital ulcer(DU) in China.MethodThe data of 166 consecutive SSc patients in EUSTAR DATABASE in Peking Union Medical Colloge Hospital from February 2009 to August 2010 were prospectively collected,and patients with DU were compared with those without DU.All patients fulfilled the ACR classification criteria for SSc in 1980.Results① Forty-nine patients (29.5％) had DU in 166 SSc patients.The disease onset age was(36±12) years(8.1-61.7 years) for those patients with DU.All had Raynaud's phenomenon(RP).② Demographic data:there were significant differences between patients with and without DU in sex (F/M 40/9 vs 112/5,P=0.005),age [(40±12) years old vs(46±12) years old,P=0.005],the onset age of RP [(33±12) years vs(39±13) years,P=0.005] and the duration from RP to the first non-RP presentaion[ (18±15) months vs(115±307) months,P=0.002 ].③ Clinical manifestations and laboratory findings:there were more diffuse SSc patients and more esophageal involvement in patients with DU (P＜0.05).ConclusionsDU in SSc patients is common,especially in man and patients with diffuse SSc.SSc patients with DU usually are younger when RP onsets and the non-RP manifestations usually present earlier when compared with those patients without DU.
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Objective To investigate clinical relevance of U1-nuclear ribonucleoprotein antibody (anti-U1 RNP) in Chinese patients with systemic sclerosis (SSc). Methods In total, 131 Chinese patients with SSc were prospectively and consecutively recruited into Scleroderma Trials and Research Group sponsored by European League Against Rheumatism (EUSTAR) from clinical database of Peking Union Medical College Hospital ( PUMCH). Their clinical features, visceral lesions and laboratory findings including detection of anti- U1 RNP were recorded. Relevance between existing anti-U1 RNP and clinical characteristics and other laboratory indicators of SSc was analyzed statistically. Results Eighty-seven of the 131 patients presented as diffused SSc (dSSc) , 36 limited SSc ( lSSc) and eight SSc/systemic lupus erythematosus (SLE) overlap syndrome, with positive rate of anti-U, RNP of 28. 2 (37/131) percent in patients with SSc. Positive rate of anti-U1 RNP in dSSc was similar to that in lSSc groups [28. 7% (25/87) and 25. 0% ( 9/36 ) , respectively, P = 0. 673]. But significantly higher prevalence of pulmonary arterial hypertension and cardiac involvement, and less white blood cell and platelets counts were observed in the patients with positive anti-U1 RNP than in those with negative anti-U1 RNP (all P 0. 05 ) . Detection rate of anti-DNA topoisomerase I ( Scl-70 antibody) was higher in SSc patients with negative anti-U, RNP. Conclusions U1 RNP antibody is a common antibody in Chinese patients with SSc, and detection for it combined with other autoantibodies will be helpful for diagnosing of SSc and predicting development of pulmonary arterial hypertension, cardiac and hematological involvements in them.
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Objective To assess the clinical features of primary biliary cirrhosis(PBC)associated with systemic sclerosis(SSc)in order to facilitate recognition of this overlap syndrome(SSc-PBC). Methods The clinical data of 9 patients with SSc-PBC in Peking Union Medical College Hospital were retrospectively studied with literature review. Results ① Nine patients including 8 female were at a mean age of(54±8)years. Sevene patients initially presented with SSc and developed PBC over(4.3±2.3)years. ② Eight patients were diagnosed limited cutaneous SSc(leSSc), which included 7 patients with CREST syndrome. The most frequent manifestations were Raynaud's phenomenon(8/9)and esophageal dysfunction(8/9). Four patients with PBC manifested subclinically, but laboratory results revealed increased ALP/GGT in most patients(8/9).Two patients received liver biopsies, which confirmed the diagnosis of PBC. ③ Antinuclear antibodies(ANA)and anti-mitochondrial antibody(AMA)were detected in all the patients, among them, 8 with positive anticentromere antibody(ACA)and 8 with positive AMA-M2. ④ UDCA and glucocorticosteroid might help early stage patients with SSc-PBC, but lack efficacy in patients complicated with interstitial lung disease, pulmonary hypertension or cirrhosis. Conclusion PBC might be overlapped with SSc, especially lcSSc(CREST syndrome). Screening of autoantibodies, such as ACA, AMA and AMA-M2, could help rheumatologists early recognition of SSc-PBC and improve the prognosis of this overlap syndrome by early intervention.
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Objective To investigate genetic polymorphisms of IRF7/KIAA1542 (rs4963128, rs2246614) and STAT4 (rs7574865) and their relationships with lupus nephritis and various autoantibodies present in Chinese Han population of SLE patients. Methods A total of 748 SLE patients and 750 healthy controls belonging to the Chinese population were enrolled into this study. They were genotyped using MALDI-TOF-MS method. Autoantibodies including anti-SSA, anti-SSB, anti-Sm, anti-RNP and anti-dsDNA were determined either by indirect immunofluorescence or double immunodiffusion methods. Results In the healthy group, rs7574865 (STAT4) T/T, T/G, G/G genotype frequency and T, G allele frequencies were as follows: 9.4% , 45. 6% , 45. 0% , 32. 2% , 67. 8% , the corresponding case group as follows: 17.0% , 48.1%, 34.9%, 41.0%, 59.0%, genotype and allele frequencies were significantly different (x2 = 26.30, P<0.01). Compared with the control group, in the case group, T/T genotype frequency and T allele frequency were significantly increased, and in three genetic models ( additive model, dominant model, recessive model), the genotype frequencies were significant difference (P <0. 01). Two polymorphic loci of rs4963128 and rs2246614 (IRF7/KIAA1542) were not statistically significant (x2 =4.49,5.32,P>0.05) in case group and control group, but the rs2246614 genotype frequencies had a statistically significant in recessive model (P <0. 05) , whereas rs4963128 genotype frequencies was no significant difference in the three genetic model (P=0.068, 0.958, 0.067, respectively). In the clinical subphenotype analysis, IRF7/KIAA1542 (rs4963128) in lupus nephritis group (OR = 2. 69, 95% CI = 1. 89-3. 82, P < 0.01) ,anti-SSA antibody group ( OR = 0. 61, 95% CI = 0. 43-0. 87, P < 0. 05 ) and anti-SSB antibody group ( OR =0. 36, 95% CI = 0. 23-0. 56, P < 0.01) of the analysis were statistically significant. At the same time, IRF7/KIAA1542 (rs2246614) in the joint comparison of positive and negative symptoms were also statistically significant (OR=1.34, 95% CI = 1. 06-1. 69, P < 0. 05). Conclusions This findings provide strong evidence suggesting that STAT4 ( rs7574865 ) is the susceptible factor of SLE in Chinese Han population. However, there is not a significant relationships between IRF7/KIAA1542 (rs4963128, rs2246614) polymorphisms and the risk of SLE, but the associations of IRF7/KIAA1542 (rs4963128, rs2246614) with the a variety of clinical subphenotypes, such as lupus nephritis, joint symptoms and production of anti-SSA antibody and anti-SSB antibody implicates IRF7/KIAA1542 as a putative candidate gene of SLE.
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Objective To evaluate the clinical significance of combined measurement of antiperinuclear neutrophil cytoplasmic antibody(ANCA)and anti-saccharomyees cerevisia antibody(ASCA)for the diagnosis of inflammatory bowel disease(IBD)patients and difierentiation of Crohn's disease(CD)with ulcerative colitis(UC).Methods A total of 159 patients with IBD(97 UC,62 CD),167 patients with other non-IBD gastrointestinal conditions(NIBDC)and 25 healthy controls(HC)were recruited in our research.ASCA and ANCA were detected by enzyme-linked immunosorbent assay(ELISA)and indirect immunofluorescence assay.respectively.Results The prevalence of ASCA-IsA or IgG in CD group,UC group,NIBDC and HC were43.5%,14.4%,29.3%and 0,respectively.The prevalence of ASCA-IgA or IgG in CD group were higher than those in other groups(X2=16.76 or 4.12,P＜0.01 or＜0.05).The prevalence of ANCA in CD group.UC group,NIBDC and HC were 8.1%,56.7%,4.8%and 0,respectively.The prevalence of AMA in UC group were much higher than those in other groups(X2=38.08 or 90.47,P＜0.01).The sensitivity specificity and positive predictive value(PPV)in ASCA+/ANCA-were 40.3%.93.8% and 80.6%,respectively,and in ANCA+/ASCA-were 48.5%,98.4% and 97.9%,respectively.Condusions ASCA or ANCA testing alone are not sensitive enoulgh for diagnosing CD and UC,but their combination asses are specific for differential diagnosis between CD and UC.Combined testing of ASCA-IgA with IgG can improve the sensitivity in screening CD patients.The ASCA positive pattern in Chinese CD group are correlated with surgery.