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To study the clinical features of myeloperoxidase(MPO) antineutrophil cytoplasmic antibody (ANCA) associated hypertrophic pachymeningitis (HP). Clinical data of 15 cases diagnosed with MPO-ANCA vasculitis complicated with HP were retrospectively analyzed. Nine cases were males and the other 6 were females, with an average age of (58±8) years. All cases presented with chronic headache. Contrast-enhanced magnetic resonance imaging (MRI) scan showed local or diffused thickening of cerebral and/or spinal dura matter while brain parenchyma were normal. Nine cases developed multiple cranial nerve paralysis, with trigeminal nerve and auditory nerve involved most commonly. The main clinical manifestations were facial pain, hearing loss and tinnitus. Two cases were complicated with hypertrophic spinal pachymeningitis (HSP) and 4 cases were complicated with pulmonary diseases. Positive serum perinuclear pattern ANCA (pANCA) and MPO could be found in all cases, positive serum IgG 4 was seen in two patients. erythrocyte sedimentation rate(ESR;25-116 mm/1h) and C-reactive protein (CRP;29.02-146.00 mg/L) were both elevated in 14 cases. Nine cases had elevated intracranial pressure[180-235 mmH 2O (1 mmH 2O=0.009 8 kPa)] and abnormal protein level (457.6-3710.0 mg/L) in cerebrospinal fluid. Six cases were treated with glucocorticoids (prednisone 20-60 mg/d) and 9 cased with glucocorticoids and immunosuppressants (methotrexate 15 mg/week or cyclophosphamide 100 mg/d po). All patients achieved remission. MPO-ANCA associated HP is a special type of central nervous system involvement in ANCA associated vasculitis (AAV). It rarely involves the lung or kidney. Steroids and immunosuppressive agents are effective. In HP with unknown underlying diseases, it is suggested to screen ANCA and IgG 4 tests for AAV or IgG 4-related disease.
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To analyze the clinical characteristics of patients with antisynthetase syndrome (ASS) and positive anti-Ro52 antibody. The clinical data of 203 ASS patients admitted to the First Affiliated Hospital of Zhengzhou University from 2017 to 2020 were analyzed retrospectively. Demographics, clinical manifestations, laboratory results, treatment and outcome were collected including data of 18 patients with rapidly progressive interstitial lung disease (RP-ILD). In total, the majority were women (148,72.9%). The average onset age was (51.9±13.3) years. There were 163 (80.3%) patients with positive anti-Ro52 antibody. The positivity in women (77.3% vs. 55.0%, P=0.004) was higher, and the median time from disease onset to diagnosis [4.5 (2.0, 24.0) months vs. 2.0 (1.0, 12.0) months, P=0.024] was longer in patients with positive anti-Ro52 antibody than those negative. Compared with negative patients, patients with positive anti-Ro52 antibody had a higher incidence of interstitial lung disease (ILD) (96.9% vs. 65.0%, P<0.001), arthritis (33.7% vs. 17.5%, P=0.046), and arthralgia (39.3% vs. 20.0%, P=0.022). Higher rate of positve antinuclear antibody (ANA) (85.3% vs. 55.0%, P<0.001), lower rate of positive anti-Jo-1 antibody (32.5% vs. 50.0%, P=0.039), lower albumin level [(34.6±5.2) g/L vs. (37.3±4.7) g/L, P=0.004] and lower lymphocyte counts [(1.4±0.8) ×10 9/L vs. (1.8±0.8) ×10 9/L, P=0.014] were more common in patients with positive anti-Ro52 antibody. The presence of anti-Ro52 antibody is associated with a particular phenotype of ASS, leading to common ILD, involvement of joints, high ANA positivity, low albumin and low lymphocyte counts.
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Objective:To study the clinical features of infective endocarditis (IE) with positive anti-neutrophil cytoplasmic antibodies (ANCA) in order to improve the level of diagnosis and treatment.Methods:Eighteen IE cases with positive ANCA admitted to the First Affiliated Hospital of Zhengzhou University from June 2016 to July 2021 were collected. The demographic information, clinical symptom, laboratory tests, imaging examinations, treatment and clinical outcomes were analyzed retrospectively. Statistical program for social sciences (SPSS) 20.0 statistical software was used for analysis. Enumeration data were expressed as the number of cases and percentage (%), and measurement data were expressed as Mean± SD. Results:Twelve cases were male and 6 cases were female, with an average age of (50±16) years. Sixteen patients had positive PR3-ANCA, in which 2 cases had positive myeloperoxidase (MPO)-ANCA. The major clinical manifestations included fever (88.9%, 16/18), anemia (72.2%, 13/18), splenomegaly (44.4%, 8/18), cardiac murmur (33.3%, 6/18), arthralgia (22.2%, 4/18), liver damage (22.2%, 4/18), thromboembolic events (16.7%, 3/18), Osler's node (11.1%, 2/18) and renal dysfunction (11.1%, 2/18). Higher C-reactive protein (CRP), erythrocyte sedimentation (ESR) and procalcitionin (PCT) were detected in 83.3% (15/18) patients. The positive rate of blood culture was 50.0%(9/18) and streptococcus was the most common pathogen (77.8%, 7/9). Echocardiograms of all patients showed abnormal vegetation, most commonly involving the mitral valve (66.7%, 12/18) and aortic valve (33.3%, 6/18). Two patients were misdiagnosed as ANCA associated vasculitis (AAV), but the other one was diagnosed as AAV with IE as the first manifestation. Except for one case who died of multiple organ failure, all cases reached clinical recovery after surgery and antibiotic therapy.Conclusion:IE patients with positive ANCA may present with the clinical manifestations similar to AAV. We should highly alert to avoid misdiagnosis and treatment.
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Objective To summarize the clinical data of macrophage activation syndrome (MAS) in adult-onset Still's disease (AOSD) patients and provide evidence for clinical diagnosis and treatment. Methods We retrospectively reviewed the clinical data of AOSD with MAS patients in the First Affiliated Hospital of Zhengzhou University from January 2012 to August 2018, and compared with patients with AOSD alone. Data were analyzed by t-test, Mann-Whitney U test, x2 test or Fisher exact test. Results A total of 14 AOSD with MAS patients were enrolled, accounting for 7.6％(14/185) of AOSD patients at the same period, including 2 males and 12 females. The median duration of AOSD in MAS was 1.3 (0.25, 4) months. Compared with the AOSD group, the age of onset was younger in the MAS group (t=-2.038, P=0.037), and the proportion of splenomegaly (t=9.020, P=0.003), pericardial effusion (t=8.663, P=0.003), pleural effusion (t=4.754, P=0.029) was higher. The white blood cell count (t=-4.171, P<0.01), hemoglobin level (t=-2.661, P=0.008), platelet count (t=-5.672, P<0.01), neutrophil count (t=-5.082, P<0.01), albumin (t=-3.426, P<0.01), fibrinogen (t=-5.986, P<0.01), ESR (t=-2.941, P=0.003), CRP (t=-2.014, P=0.044) was significantly decreased, ALT (t=-3.227, P<0.01), AST (t=-3.105, P=0.002), triglyceride (t=-5.612, P<0.01), ferritin>2000 μg/L (t=7.833, P=0.005) was significantly increased. Fourteen patients with AOSD complicated with MAS were treated with glucocorticosteroids, 5 with methylprednisolone, 8 with cyclosporine A, 8 with intravenous immunoglobulin (IVIG), 2 with etoposide, and 1 with tocilizumab. After treatment, 11 cases recovered and 3 cases died. Conclusion Younger AOSD patients tend to complicated with MAS, especially at the early course of the disease, and splenomegaly occur more frequently clinically compared to patients without MAS. When blood cell count, fibrinogen and ESR decreases, triglyceride and ferritin levels increases in AOSD patients, the occurrence of MAS is indicated. Timely treatment can improve the prognosis of patients.
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Objective To investigate the clinical features of myeloperoxidase antineutrophil cytoplasmic antibody (MPO-ANCA) associated hypertrophic pachymeningitis (HP).Methods Clinical data of 4 casesdiagnosed with MPO-ANCA vasculitis complicated with HP in our hospital were analyzed retrospectively and the related literaturewere reviewed.Results Four male patients with an age range from 44 to 66 years were diagnosed with ANCA-associated HP.The main clinical manifestations included headache and withvarious degree ofmultiple cranial paralysis.During active phase of the disease,all patients showed perinuclear(p)-ANCA positive,elevated levels of inflammatory biomarkers and titers of MPO-ANCA,whereas renal function,cytoplasmic (c)-ANCA and protease 3 (PR3)-ANCA were negative.Contrast-enhanced cranial magnetic resonance imaging (MRI) scan showed obviously thickened dura mater and sinusitis or mass in paranasal sinus.Four patients were sensitive to glucocorticoid.Three patients had a relapse during glucocorticoid tapering and were undercontrol when the dosage of glucocorticoid was increased and immunosuppressive agents were added.Levels of inflammatory biomarkers,titers of MPO-ANCA and p-ANCA recovered to normal,and the dural thickness on MRI was reduced in the remission stage.Conclusion MPO-ANCA associated HP is a type of central nervous system involvement in ANCA associated vasculitis (AAV).It involves the upper respiratory tract more frequently,and less frequently progresses to systemic AAV.This should be taken into consideration when middle-aged and elderly patients presented with headache and multiple cranial neuropathies.Enhanced MRI is the preferred examination for diagnosis,and dural biopsy should be done when necessary.
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Objective To undertake an updated genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in mainland China. Methods SCA 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy (DRPLA) nucleotide repeat mutations were detected in 430 families with autosomal dominant SCA (ADCA) and 237 patients with sporadic ataxias by PCR and DNA sequencing. Subsequently, point and Indel (Insertion/deletion) mutation analyses of SCA5, SCA11, SCA13, SCA14, SCA15/16/29, SCA27, SCA31 and SCA35 were detected in 91 families with ADCA and 196 patients with sporadic ataxias excluded from SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and DRPLA genotypes via PCR and Denaturing High Performance Liquid Chromatography (PCR-DHPLC), Multiplex ligation-dependent probe amplification and DNA direct sequencing analysis. Results Among the 430 ADCA families, there were 25 SCA1 (5.81%), 27 SCA2 (6.28%), 267 SCA3/MJD (62.09%), 8 SCA6 (1.86%), 8 SCA7 (1.86%), 1 SCA12 (0.23%), 1 SCA17 (0.23%) and 2 SCA35 (0.47%), and the remaining 91 families (21.16%) were genetically unidentified. Among the 237 sporadic SCA patients, there were 6 SCA1 (2.53%), 9 SCA2 (3.80%), 23 SCA3/MJD (9.70%) and 3 SCA6 (1.27%), and the remaining 196 (82.7%) were genetically unidentified. No pathogenic point mutation causing SCA5, SCA11, SCA13, SCA14, SCA27 or SCA31 subtypes was found. Conclusion SCA3/MJD is substantially the most common subtype in patients with ADCA and sporadic forms in mainland China, followed by SCA2, SCA1, SCA6 and SCA7. While SCA12, SCA17 and SCA35 are seldom found, SCA5, SCA8, SCA10, SCA11, SCA13, SCA27, SCA31 and DRPLA are very rare. The high proportion of genetically unidentified cases further verify that SCAs are of highly genetic heterogeneity, suggesting that other disease-causing genes might be involved in the negative ADCA pedigrees, and other etiological factors may involve in those sporadic cases other than genetics.