Children systemic lupus erythematosus-associated pancreatitis.

OBJECTIVE: To early recognise and improve the prognosis of children systemic lupus erythematosus (cSLE)-associated pancreatitis by summarising and analysing clinical features and prognosis data from 12 cases. METHODS: Retrospective analysis of clinical data from 12 cases of cSLE-associated pancreatitis diagnosed and treated from January 2016 to December 2021 at hospitals such as Children's Hospital of Capital Institute of Paediatrics. RESULTS: The median SLEDAI-2K score for disease activity was 18.00 (range 12.25-21.00) in the case group and 10.00 (range 7.00-18.00) in the control group, with a statistically significant difference (P < 0.05) between the two groups. The case group had a higher proportion of abdominal pain, vomiting, abdominal distension, pleural effusion, Raynaud's phenomenon (RP), splenic infarction, and concurrent macrophage activation syndrome (MAS) than the control group, with a statistically significant difference (P < 0.05). Serum ferritin (SF), alanine transaminase (ALT), aspartate transaminase (AST), lactate dehydrogenase (LDH), amylase, and increased 24-h urine protein levels were statistically different between the two groups (P < 0.05); platelet counts (PLT) reduction was also statistically different (P < 0.05). The case group had a higher proportion of methylprednisolone pulse therapy, cyclophosphamide pulse therapy during remission induction, and therapeutic plasma exchange than the control group, with a statistically significant difference (P < 0.05) between the two. CONCLUSION: CSLE-associated pancreatitis has a high fatality rate. The presence of RP, splenic infarction, pleural effusion, and MAS warrants attention from clinicians regarding the possibility of pancreatitis. Once pancreatitis is detected, the primary disease needs active treatment for better prognosis.

Hypertension as a prominent manifestation secondary to renal artery lesions in pediatric Behcet's disease.

OBJECTIVE: Hypertension caused by vascular Behcet's disease (BD) is an important prognostic factor of paediatric BD. However, much less is known about its clinical features. The objective of this study was to investigate the clinical characteristics of paediatric vascular BD complicated by hypertension. METHODS: A retrospective study was carried out in paediatric BD patients complicated by hypertension treated in the Children's Hospital Capital Institute of Paediatrics from Jan 2009 to Dec 2022. RESULTS: Of 65 BD patients, 6 (9.2%) were complicated by hypertension, 5 patients were female, and the median ages of onset and diagnosis were 9.8 years and 11.3 years, respectively. Three patients were found to have cardiac involvement and hypertensive retinopathy secondary to hypertension. Five of the 6 patients with hypertension had right renal artery involvement, and all of them were treated with glucocorticoids and immunosuppressants. Four patients were treated with biological agents. One patient with severe renal artery stenosis underwent unsuccessful vascular interventional therapy. After 3-6 years of follow-up, five patients were found to have renal atrophy, and one patient was at stable condition. CONCLUSION: Hypertension in paediatric BD is mainly caused by renal artery involvement. Early recognition and treatment of vascular involvement in BD is important to prevent poor prognosis.

Clinical characteristics and prognosis of childhood-onset lupus mesenteric vasculitis as the initial presentation-a case-control study.

BACKGROUND: Lupus mesenteric vasculitis (LMV) as initial presentation is rare, especially in childhood-onset systemic lupus erythematosus (cSLE). It is a critical complication of lupus. At present, the research on cSLE with LMV as the initial presentation is few. The aim of this study was to analyze the clinical characteristics and prognosis of cSLE with LMV in the Chinese population, compared with non-LMV cSLE. METHODS: A retrospective case-controlled study was conducted on 55 cSLE patients between July 2018 and July 2021. The clinical data, laboratory findings, imaging, treatment, and follow-up data were collected and compared between the two groups of cSLE with LMV and non-LMV. Non-LMV cSLE patients were matched according to the age and sex of LMV patients. RESULTS: A total of 11 cSLE patients with LMV as the LMV group and 44 cSLE patients without LMV as the non-LMV group were included. The average age of onset was 12.55 ± 1.57 years old, the male-to-female ratio was 2:9, and high disease activity was observed in the LMV group. Abdominal pain was most common in LMV. Compared with the non-LMV, the percentage of abdominal pain, vomiting, abdominal distension, and diarrhea was higher, and gastrointestinal tract, serous cavity, kidney, and lung damage were higher in the LMV group (P < 0.05). In abdominal-enhanced CT, the percentage of intestinal wall thickening, peritoneal effusion, mesenteric vascular enhancement, hydronephrosis with ureteral dilatation, intestinal congestion, and gastric mucosa thickening in the LMV group were higher than those in the non-LMV group (P < 0.05). The percentage of receiving methylprednisolone pulse combined with cyclophosphamide pulse therapy in LMV was higher than in non-LMV. The clinical symptoms disappeared quickly, and there were no deaths in the LMV group. Compared with the non-LMV group, the 24-h urinary protein was higher, the complement C3 was lower, and the disease activity was higher in the LMV group (P < 0.05). CONCLUSIONS: LMV often occurs in 12 ~ 13-year-old girls with high disease activity of cSLE. Abdominal pain is the most common and more susceptible to damage to the kidney, serous cavity, and lung in cSLE with LMV. Methylprednisolone pulse combined with CTX pulse therapy is effective. After the treatment above, cSLE with LMV has a good prognosis, but the overall recovery is worse than non-LMV patients.

Clinical characteristics and risk factors of coronary artery lesions in chinese pediatric Takayasu arteritis patients: a retrospective study.

BACKGROUD: To summarize the clinical characteristics and identify the risk factors for pediatric Takayasu arteritis (TAK) with coronary artery lesions (CALs). METHODS: Clinical data of pediatric TAK patients in our center were retrospectively assessed. Independent risk factors for CALs were identified using multivariate logistic regression analysis. Survival analysis was used to compare differences in survival rates between the groups. RESULTS: Among the 66 pediatric TAK cases, the incidence of accompanying CALs was 39.4%. In the CAL group, 19 (73.1%) cases started within 36 months. None of the patients had symptoms of angina or ischemia on electrocardiogram (ECG), the CALs were detected using coronary ultrasound. The CALs most commonly were the left main and right coronary arteries. The lesions were mostly small or middle coronary artery aneurysms; some children may have giant coronary aneurysmal dilations, thrombosis and heart failure. The age of onset and symptom onset to diagnosis in TAK patients with CAL were lower than those in TAK patients without CAL(P < 0.005). TAK patients with CAL had significantly higher CRP,WBC, PLT,TNF-α and IL-2R levels (P < 0.05), lower HGB (P = 0.01), lower rate of renal artery stenosis (RAS) (P = 0.009). In multivariate logistic regression, the risk factors for pediatric TAK combined with CAL included the age of TAK onset (OR = 0.9835, 95% CI: 0.9710-0.9946, P = 0.006) and RAS (OR = 0.1901, 95% CI: 0.0386-0.7503, P = 0.03). In addition, there was no significant difference in survival rates between the two groups after regular treatment. CONCLUSION: This study showed that the occurrence of CAL in pediatric TAK patients has a relatively more rapid clinical course, and a stronger inflammatory state at the time of diagnosis. The earlier the age of TAK onset and without RAS are more likely to cause CAL.

Paediatric autoimmune diseases with ELANE mutations associated with neutropenia.

OBJECTIVE: To explore the clinical characteristics of autoimmune diseases in children with ELANE mutations. METHODS: Three cases of children with ELANE mutations manifesting as autoimmune diseases, who were under treatment from April 2020 to May 2021, were retrospectively analysed. RESULTS: Among the three children, two were boys aged 15 years and 22 months (cases 1 and 3) respectively, and the other one was a 22-month-old girl (case 2). All the cases had recurrent infections. Case 1 presented with cyclic neutropenia and systemic lupus erythematosus (SLE). Case 2 presented with severe neutropenia and autoimmune haemolytic anaemia (AHIA). Case 3 presented with severe neutropenia and anti-neutrophil cytoplasm antibodies (ANCA)-associated small vasculitis. Genetic tests showed that they all had heterozygous mutations in the ELANE gene. Case 1 was treated with methylprednisolone and hydroxychloroquine sulphate for 2 years, making neutrophil level return to normal. Case 2 received allogeneic hematopoietic stem cell transplantation and has stopped taking antibiotics, steroids and all the immunosuppressors. Case 3 received subcutaneous injections of granulocyte colony-stimulating factor, oral prednisone and cyclophosphamide. The boy in case 3 has been followed up for one year, and his absolute neutrophil count has increased to 1.56 × 109/L. CONCLUSION: Patients with ELANE mutations, combined with autoimmune diseases, may have recurrent infections. Disease-modifying antirheumatic drugs (DMARDs) are effective for autoimmune diseases. Autoimmune diseases with ELANE mutations associated with neutropenia can be cured through allogeneic hematopoietic stem cell transplantation.

Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.

OBJECTIVE: To summarise the clinical and genetic characteristics of three children with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. METHODS: This study retrospectively analysed the clinical and genetic data of three children with PAMI syndrome in our hospital between April 2018 and January 2020. RESULTS: One male and two female children were 6 years and 5 months, 8 years and 7 months, and 13 years and 3 months of age. All three patients had a recurrent blood trilineage hypoplasia and splenomegaly. Patient 1 had pyoderma gangrenosum, and Ludwig's angina. Patient 2 had pyogenic arthritis, and pyoderma gangrenosum. Patient 3 had hepatomegaly, pyogenic arthritis, and pulmonary hypertension. Laboratory tests revealed that all three children had elevated C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Patient 1: C-antineutrophilic cytoplasmic antibodies(c-ANCA), positive; antiglobulin test (Coombs), positive. Patient 2: blood zinc, 4.38 mg/L (elevated). Patient 3: Antinuclear antibodies (ANA), 1:100, ß2 glycoprotein I, positive; Coombs test, positive; RF, 28.3 U/ml (elevated); C3, 0.77 g/L (decreased). Genetic testing showed that all 3 patients had PSTPIP1 c.748G > A (p.E250K) spontaneous heterozygous mutations, suggesting the diagnosis of PAMI syndrome. Patient 1 was treated with a combination of methylprednisolone and cyclosporine for 8 months. The patient did not develop new skin lesions. The blood count showed mild neutropenia. The spleen was considerably retracted and the CRP became normal. Patient 2 was treated with etanercept and methylprednisolone. The patient had no further arthralgias and pyoderma gangrenosum showed improvement. The spleen was smaller than before. White blood cells were shown to be approximately 2-3 × 109/L. The haematocrit, platelets, CRP, and AESR were normal. Patient 3 was treated with methylprednisolone, methotrexate, and infliximab 4 times. The patient's joint symptoms disappeared gradually and the liver retracted markedly. The pulmonary artery pressure returned to normal. Moreover, Coombs test result was negative. CRP and AESR were lower than before. CONCLUSION: PAMI syndrome can manifest as pyogenic arthritis, pyoderma gangrenosum, acne, and trilineage hypoplasia, as well as autoimmune diseases. Glucocorticoid and immunosuppressive therapy are partially effective and cytokine antagonists can be used in refractory cases. Whole-exome genetic testing is helpful to confirm diagnosis.

Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases.

OBJECTIVE AND DESIGN: We studied five cases of PID-related monogenic lupus to explore the characteristics. MATERIAL OR SUBJECTS: Among 42 cases of PID patients between 2017-2020, 5 patients were diagnosed as PID-related monogenic lupus, including 2 males and 3 females, with age range from 2 years 3 months to 13 years old. TREATMENTS: DMARDs, biological agents and stem cell transplantation were used to treat different patients. METHODS: We collected the clinical observation indicators, auxiliary examination and treatment of the five patients. RESULTS: Patient 1 was diagnosed with monogenic lupus secondary to severe combined immunodeficiency and received prednisone and methotrexate treatment. Patient 2 was diagnosed with monogenic lupus secondary to activated phosphoinositide 3-kinase δ syndrome. Allogeneic stem cell transplantation was conducted. Patient 3 was diagnosed with monogenic lupus secondary to RAS-associated lymphoproliferative disease. The child was treated with prednisone and rituximab. Patient 4 was diagnosed with monogenic lupus secondary to PSTPIP1-associated myeloid-related proteinaemia inflammatory syndrome. The child was given methylprednisolone, methotrexate, and infliximab. Patient 5 was diagnosed with monogenic lupus secondary to A20 haploinsufficiency. The child was treated with methylprednisolone and infliximab. CONCLUSIONS: Multiple PIDs can lead to monogenic lupus. Different PID-related monogenic lupus has different suitable targeted drugs.

Clinical characteristics and genetic analysis of A20 haploinsufficiency.

PURPOSE: To evaluate the clinical and genetic characteristics of 3 children with Haploinsufficiency of A20 (HA20). METHODS: The clinical and genetic testing data of 3 children with HA20 treated at Capital Institute of Pediatrics (CIP) between August 2016 and October 2019 were retrospectively analysed. RESULT: Patient 1 presented with arthritis and inflammatory bowel disease, patient 2 presented with axial spinal arthritis and lupus-like syndrome, and patient 3 presented with recurrent oral ulcers, gastrointestinal ulcers, and perianal abscesses. Regarding laboratory tests, patients were found to have elevated white blood cell (WBC) count, C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). The CRP and ESR was reported to be high in all the patients. The WBC was reported to be high in patient 1 and 3. Patient 2 was positive for antinuclear antibodies, anti-Sjögren's syndrome antigen A, dsDNA, rheumatoid factor and Coombs test. Genetic testing showed that all three patients had heterozygous mutation in TNFAIP3 gene. As for the treatment, patient 1 was treated with TNFα antagonist, patient 2 was treated with TNF α antagonist and sulfasalazine, and patient 3 was treated with corticosteroids and thalidomide. Patients 1 and 2 were followed for four and 3 months, respectively. There was an improvement in joint and gastrointestinal symptoms; inflammatory indices and rheumatoid factor (RF) were normal, and dsDNA and Coombs test became negative. Patient 3 was treated at another hospital and showed gradual improvement in oral ulcers and perianal abscesses. CONCLUSION: HA20 is a single-gene auto-inflammatory disease caused by mutation in tumour necrosis factor (TNF)-α-induced protein 3 (TNFAIP3) gene. It may present as Behçet-like syndrome and resemble various other autoimmune diseases as well. Corticosteroids and immunosuppressive agents are effective treatments, and cytokine antagonists can be used in refractory cases. Whole-exome genetic testing should be proactively performed for children with early-age onset or Behçet-like syndrome to achieve early diagnosis and accurate treatment.

The quality of life in Chinese juvenile idiopathic arthritis patients: psychometric properties of the pediatric quality of life inventor generic core scales and rheumatology module.

BACKGROUND: Juvenile idiopathic arthritis (JIA) may seriously affects patients' quality of life (QoL), but it was rarely focused and studied in China, so we explore JIA children's QoL using Chinese version of the PedsQL4.0 Generic Core and PedsQL3.0 Rheumatology Module scale, and analyzed the psychometric properties of these two Scales among Chinese JIA children. METHODS: We recruited 180 JIA patients from Children's Hospital Affiliated to Capital Institute of Pediatrics and Hebei Yanda Hospital from July 2018 to August 2019. The questionnaires include information related on JIA, PedsQL4.0 generic core and PedsQL3.0 Rheumatology Module scales. According to the disease type, onset age of and course of JIA, we divided them into different groups, then compared the QoL status among different groups. Moreover, we analyzed the reliability and validity of these two scales in these 180 JIA children. RESULTS: The mean score of PedsQL4.0 generic core scale on these 180 patients was 82.85 ± 14.82, for these in active period was 72.05 ± 15.29, in remission period was 89.77 ± 9.23; the QoL score of systemic, polyarticular and oligoarticular JIA patients were 77.05 ± 19.11, 84.33 ± 12.46 and 87.12 ± 10.23. The mean score of PedsQL3.0 Rheumatology Module scale on 180 patients was 91.22 ± 9.45, for these in active period was 84.70 ± 11.37, in remission period was 95.43 ± 4.48; the QoL score of systemic, polyarticular and oligoarticular JIA patients were 89.41 ± 11.54, 89.38 ± 10.08 and 93.71 ± 6.92. In the PedsQL 4.0 Generic Core scale, the α coefficients of total scale and almost every dimension are all greater than 0.8 except for the school activity dimension of 0.589; the correlation coefficients of 22 items' scores (total 23 items) with the scores of dimensions they belong to are greater than 0.5 (maximum value is 0.864), and the other one is 0.406. In PedsQL3.0 Rheumatology Module scale, except for the treatment and worry dimensions of 0.652 and 0.635, the α coefficients of other dimensions and the total scale are all greater than 0.7; the correlation coefficients of all items' score were greater than 0.5 (the maximum is 0.933, the minimum is 0.515). CONCLUSIONS: The QoL of Chinese JIA children is worse than their healthy peers, these in active period and diagnosed as systemic type were undergoing worst quality of life. The reliability and validity of PedsQL 4.0 Generic Core and PedsQL3.0 Rheumatology Module scale in Chinese JIA children are satisfactory, and can be used in clinical and scientific researches.

Long-term follow-up of autologous hematopoietic stem cell transplantation for refractory juvenile dermatomyositis: a case-series study.

OBJECTIVE: To follow up the refractory juvenile dermatomyositis (JDM) with autologous hematopoietic stem cell transplantation (AHSCT) in a long time and to investigate whether AHSCT is effective and safe to treat refractory JDM. METHODS: We collected the AHSCT and follow-up data of three patients with refractory JDM who received autologous peripheral blood CD34+ cell transplantation in our hospital between June 2004 and July 2015. Those data include: hight, weight, routine blood and urine tests, ESR, CK, ALT, AST, LDH, renal functional tests, lymphocyte subpopulations, HRCT and muscle MRI. The last follow-up was done in June 2017. RESULTS: All three patients had complete remission and could stop prednisone after 3-12 months. None of them relapsed at 144, 113 and 23 months follow-up. Twelve months after their AHSCT, all of their monitoring indexes have returned to normal and they have stopped all medications. Until the date of this article, none of them relapsed or need medicine. CONCLUSION: Our study suggests that AHSCT is safe and effective in treating refractory JDM, and it can provides long term drug-free survival. However, more cases are needed for further confirmation.

Sixteen Chinese pediatric brucellosis patients onset of fever in non-epidemic areas and 8 developed with osteoarticular involvement.

The purpose of this study is to summarize the manifestations, diagnosis, differential diagnosis, and treatment of childhood brucellosis in non-epidemic areas of China. A retrospective review of 16 admitted children patients with brucella's disease who were diagnosed of brucellosis during the period from 2011 to 2016 was performed. Diagnostic criteria, clinical presentations, and outcomes were recorded. The most common symptom was fever. Osteoarticular involvement was found in 50% of the patients. They were infected by contacting with infected animals or consuming of unpasteurized milk or meat of sheep or goats, also. Standard agglutination test was positive in all patients and blood culture in 10 (62.5%) patients as well as medulloculture in 3 (18.8%) patients were positive. A combination of antibiotic treatment with rifampin plus cotrimoxazole showed good response and all clinical manifestations improved. Brucellosis is misdiagnosed frequently and should be considered in the differential diagnosis when patients do not respond to standard treatment. Blood culture, together with brucella serology test, is important and helpful in the diagnosis. MRI is a good method in differentiating those with symptoms of arthritis.

Differential plasma microRNAs expression in juvenile idiopathic arthritis.

OBJECTIVES: To identify potential novel biomarkers for juvenile idiopathic arthritis (JIA), we evaluated the correlation between plasma expression levels of specific miRNAs and disease characteristics of JIA. METHODS: Differentially expressed miRNAs in JIA plasma were identified by microarray analysis. Five candidate plasma miRNAs with differential expression were further evaluated by qRT-PCR. The correlation between the expression of candidate plasma miRNAs and clinical parameters of JIA patients was assessed. RESULTS: The expression of miR-16, miR-146a, and miR-223 was higher, and miR-132 was lower, in the plasma of JIA patients as compared with healthy subjects and juvenile ankylosing spondylitis patients (p < 0.05). Plasma miR-16 concentrations were considerably higher for polyarticular JIA patients than oligoarticular JIA patients and correlated with the juvenile arthritis magnetic resonance imaging scores for the hip and plasma interleukin-6 or IL-6 levels. Additionally, miR-146a levels correlated directly with the Juvenile Arthritis Disease Activity Scores in 27 joints, the swollen joint count, the limited joint count, and the juvenile arthritis magnetic resonance imaging scores for the hip, but correlated inversely with plasma tumor necrosis factor-α or TNF-α levels. CONCLUSIONS: This study demonstrates that the expression of plasma miRNAs correlates with JIA disease and suggests that plasma miR-16 and miR-146a have potential novel value for JIA diagnosis.

High expression levels of microRNA-629, microRNA-525-5p and microRNA-516a-3p in paediatric systemic lupus erythematosus.

Paediatric systemic lupus erythematosus (pSLE) refers to childhood-onset systemic lupus erythematosus. pSLE has its own unique characteristics, and its pathogenesis is unclear. To study the relationship between microRNAs (miRNAs) and pSLE, we selected three pSLE patients who were newly diagnosed and had not yet been treated, and two controls were also included. We collected their peripheral blood mononuclear cells to perform Agilent human miRNA (8×15 k) 12.0 analysis. To verify the results, we next selected 12 other pSLE patients who had different disease activities and 3 healthy controls and conducted real-time PCR. The results showed high expression of miRNA-516a-3p, miRNA-629 and miRNA-525-5p in pSLE patients with active disease; these levels were normal in patients without active disease. Increased expression levels of these three miRNAs were positively correlated with the score obtained from the systemic lupus erythematosus disease activity index scoring system (SLEDAI) 2000 and C-reactive protein (CRP) levels. Furthermore, the target genes of these three miRNAs were important to the pathogenesis of pSLE. Therefore, these three miRNAs might be specific to pSLE and may be used as novel biomarkers of pSLE to diagnose and monitor the disease.

Hypomethylation of long interspersed nucleotide element-1 in peripheral mononuclear cells of juvenile systemic lupus erythematosus patients in China.

AIM: Methylation abnormalities in T lymphocytes have been reported to correlate with systemic lupus erythematosus (SLE). Previous studies identified hypomethylation in the promoter of several genes linked to SLE. Long interspersed nucleotide element-1 (LINE-1) constitutes 17-25% of the human genome, and LINE-1 hypomethylation has been reported in SLE. Limited information is available regarding LINE-1 methylation in juvenile SLE (JSLE). METHOD: Methylation levels of LINE-1 in peripheral blood mononuclear cells (PBMCs) from 59 JSLE and 47 control samples were examined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Total homocysteine (tHcy) concentrations in plasma were measured by immunoassay. RESULTS: Significant hypomethylation of LINE-1 was observed in PBMCs from JSLE patients (60.93% in cases compared with 62.88% in controls, P = 0.001). Significant LINE-1 hypomethylation was observed in active SLE compared to controls (60.66% vs. 62.88%, P = 0.001). According to other clinical parameters, a significant correlation was found between LINE-1 methylation levels and the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2000) of the cases (r = -0.285, P = 0.032). The risk of JSLE increased with decreasing levels of LINE-1 methylation, with an odds ratio of 14.5 (95% CI: 2.8-75.6, P = 0.002). Cases had significantly higher plasma concentrations of tHcy than controls (15.11 vs. 11.02 µmol/L, P = 0.028); the correlation between LINE-1 methylation levels and tHcy was significant (r = -0.4, P = 0.013). Correlations between methylation levels of LINE-1 and complement component 3 were significant (r = 0.317, P = 0.044; r = 0.387, P = 0.031, in total JSLE and active JSLE, respectively). CONCLUSION: Hypomethylation of LINE-1 is associated with risk of JSLE, and LINE-1 methylation levels were related to disease activity and clinical manifestations. The correlation between tHcy levels and LINE-1 methylation was significant.

Long-term follow-up of autologous stem cell transplantation for severe paediatric systemic lupus erythematosus.

This study attempts to evaluate the outcome of autologous peripheral blood hematopoietic stem cell transplantation (auto-PBHSCT) in patients with severe paediatric systemic lupus erythematosus (SLE). Five patients (n = 2 females, n = 3 males) with severe or refractory paediatric SLE received autologous peripheral blood CD34+ cell transplants between July 2005 and February 2009. The patients ranged in age from 6 to 14 years, and the course of disease extended over a period from 5 to 90 months. All of the patients received conventional therapy for 3 to 87 months. After their discharge from the hospital, the patients continued to maintain their regular follow-up visits and basic quality of life. The patients exhibited decreased immune function after the auto-PBHSCT. The CD4+ and CD19+ cells were significantly reduced. Viremia occurred in four patients 2 months after the transplantation. All of the patients went into clinical remission in 3-6 months. The severity of encephalopathy, nephritis and organ damage declined in varying degrees. The disease recurred in patient 2 at 9 months and in patient 4 at 12 months after the transplantation. Because the disease was relatively mild, we were able to administer small doses of glucocorticoids that were sufficient to control the course of the disease. Macrophage activation syndrome occurred in patient 3 at 18 months after the transplantation. At the end of the follow-up period, three of the five patients were completely off their medications. Another two patients sustained small doses of glucocorticoids. The developmental levels of these patients were comparable to those of normal children at the end of the follow-up. The quality of life improved significantly. The auto-PBHSCT is effective for severe and refractory paediatric SLE. The incidence of lethal infection and other adverse reactions is low. Long-term remission can be achieved. A milder form of the disease may have recurred after the transplantation.

[Rituximab therapy for severe pediatric systemic lupus erythematosus].

OBJECTIVE: To analyze the safety and efficacy of anti-CD20 monoclonal antibody in treatment of severe pediatric systemic lupus erythematosus (PSLE). METHOD: The diagnosis of PSLE was made according to the criteria for the classification of systemic lupus erythematosus revised by the American College of Rheumatology in 1997. Severe cases with PSLE was selected by the following criteria: age ≤ 16 years, number of important organs involved > 1, SLEDAI score > 10 points and poor response to conventional immunosuppressive treatment. These patients received 2 doses of 375 mg/m(2) rituximab (RTX), 2 weeks apart. Clinical, laboratory findings and drug side effects were recorded at RTX initiation, 2 weeks, 1 month, 3, 6 and 12 months after infusion. RESULT: A total of 20 patients. Male to female ratio was 1:3, were enrolled. They were 5-16 years old. The course of disease was (3.0 ± 2.5) years (range: 1 month-7 years), patients were followed up for 12 - 36 months [median: (27.0 ± 7.8) months]. Delirium and cognitive disorders were significantly improved in 10 cases of lupus encephalopathy after 1 month. Lupus nephritis in children were eased slowly, 14/15 patients with lupus nephritis were improved after 2-3 months. Four cases of lupus pneumonia were significantly improved within 1 month. Decreased blood cells counts were relieved at 1 month in 16/18 cases. Cellular immune function was assessed 2 weeks after application of anti-CD20 monoclonal antibody; we found B-cell clearance in 19 patients (95%). B lymphocyte count of 18 patients (90%) was restored within one year. SLEDAI score was reduced obviously. Dose of corticosteroid ranged from (45.0 ± 4.7) mg/m(2) before drug use to (12.0 ± 2.7) mg/m(2) 12 months later (P < 0.001). After the drug use, 5 patients had pneumonia within 6 months; 2 cases who suffered from aspergillus pneumonia and Pneumocystis carinii pneumonia respectively were severe. They accepted mechanical ventilation and anti-inflammatory support after being transferred to the intensive care unit, and their conditions improved at last. No death occurred. In 2 patients the disease recurred with B-cell recovery after 15 months and 18 months. Administration of another cycle of rituximab resulted in remission again in one case but not in the other. CONCLUSION: Anti-CD20 monoclonal antibody is effective and safe in treatment of severe PSLE. But severe infections may occur in some cases. Focusing on prevention and early treatment can reduce the probability of adverse reactions.