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Objective:To explore the clinical features and risk factors of systemic lupus erythematosus(SLE) concomitant with interstitial lung disease(ILD) in children.Methods:A retrospective analysis was performed.A total of 111 hospitalized children diagnosed with SLE in the Department of Rheumatology and Immunology, Children′s Hospital of Soochow University from February 2016 to November 2018 were selected as the research subjects and divided into the SLE-ILD group(18 cases) and the SLE-non-ILD group(93 cases)according to the lung high-resolution CT manifestations. T-test and Wilcoxon rank sum test were used to compare and analyze the general situation, clinical manifestations and laboratory results.Multivariate Logistic regression was used to analyze the risk factors of SLE-ILD. Results:The prevalence of SLE-ILD was 16.2%(18/111 cases). There were significant differences between the SLE-ILD group and the SLE-non-ILD group in the course of disease [14.00 (12.00-24.25) months vs.1.00(1.00-2.00) months], the incidence of serositis [55.6%(10/18 cases) vs.8.6%(8/93 cases)], post-activity shortness of breath [83.3%(15/18 cases) vs.25.8%(24/93 cases)], nervous system damage [27.8%(5/18 cases) vs.6.5%(6/93 cases)], cardiovascular system damage [38.9%(7/18 cases) vs.9.7%(9/93 cases)], the occu-rrence of increased erythrocyte sedimentation rate [66.7%(12/18 cases) vs.31.2%(29/93 cases)], the decreased C 3[88.9%(16/18 cases) vs.62.4%(58/93 cases)], positive anti neutrophil cytoplasmic antibody (ANCA) [88.9%(16/18 cases) vs.18.3%(17/93 cases)], positive anti-Sm antibody [61.1%(11/18 cases) vs.15.1%(14/93 cases)] and anti ribonucleoprotein antibody (anti RNP antibody)[66.7%(12/18 cases) vs.16.1%(15/93 cases)](all P<0.05). Logistic regression analysis demonstrated that serositis( OR=30.535, 95% CI: 2.167-430.336, P=0.011), shortness of breath after exercise( OR=55.115, 95% CI: 1.117-2 579.852, P=0.041), positive ANCA( OR=65.090, 95% CI: 4.488-944.071, P=0.002) and positive anti-RNP antibody( OR=10.007, 95% CI: 1.362-73.500, P=0.024) were risk factors for SLE-ILD. Conclusions:The longer the course of SLE, the higher the incidence of ILD; serositis, shortness of breath after exercise, positive ANCA and positive anti RNP antibody may be risk factors for SLE-ILD.
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Objective@#To investigate the clinical and genetic character of Chinese children with the aarF domain containing kinase 4 (ADCK4)-associated glomerulopathy.@*Methods@#Applying next generation sequencing to detect possible gene mutation(renal disease associated monogene was pooled as one panel) in 69 children with steroid-resistant nephrotic syndrome (SRNS) or persistent proteinuria of unknown origin. Sanger sequencing was used to confirm the significant mutations found in the children and to validate these mutation sites in their patients. Using online software (PolyPhen2, SIFT, Mutation Taster) to predict whether the detected missense mutations were disease causing or not. Collecting and analyzing clinical data of children with ADCK4-associated glomerulopathy, which included onset age, clinical manifestation, and renal pathology.@*Results@#The ADCK4 gene mutation was detected in 8 children with a positive rate of 11.6% (8 out of 69), among which 3 patients carried homozygous c.748G>C mutation, 3 patients carried homologous c.737G>A mutation, 1 patient carried compound heterozygous mutation(c.748G>C and c.737G>A), and 1 patient carried compound heterologous mutation(c.551A>G and c.737G>A). Collectively, there were only 3 mutation sites found in total 8 patients, in which the mutation sites of c.748G>C and c.737G>A had high detection frequency in these 8 patients. These 3 mutation sites were all missense mutation which were predicted to be disease causing by online software and not reported before. The average onset age was 6.5 years (2 years-11.75 years). Four patients presented with SRNS and the other 4 presented with persistent proteinuria. All 8 patients had no extrarenal manifestation, renal biopsy revealed focal segmental glomerulosclerosis (FSGS) in most patients, among which 3 cases had gone to end-stage renal disease (ESRD) at disease onset, and 2 cases progressed to ESRD 2 and 5 years after onset respectively. Seven patients had received glucocorticoid and/or immunosuppressive drug while only one patient getting partial response. All 8 patients were treated with large amount of coenzyme Q10 (15 mg·kg-1·d-1) after definite diagnosis of ADCK4 mutation-some patients had acquired encouraging curative effect.@*Conclusions@#ADCK4-associated glomerulopathy is not rare especially in the children with SRNS. The onset age is relatively old and the extrarenal manifestation is less common. FSGS is a main pathology type. Patients usually have no response to immunosuppressive therapy, but may benefit from addition of large amount of coenzyme Q10. Some patients may only manifest with insidious proteinuria, causing the early diagnosis to be difficult, which deserves more attention. Three new missense mutations expand disease causing mutation repertoire of ADCK4 gene, among which the two sites of c.748G>C and c.737G>A may be mutation hotspot of ADCK4-associated glomerulopathy in Chinese population, and need further study.
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Objective To evaluate the efficacy and safety of tacrolimus (TAC) for treatment of Henoch-SchSnlein purpura nephritis in children.Methods Forty children with Henoch-SchSnlein purpura nephritis (pathological grade Ⅲ-Ⅵ) in Children's Hospital Affiliated to Soochow University from January 2013 to June 2016 were selected and divided into TAC group (n =19) and cyclophosphamide (CTX) group (n =21).The children in TAC group were given TAC orally;the children in CTX group were given CTX pulse therapy intravenously.The 24 h urine protein,urine red blood cell count,serum albumin,serum creatinine and blood urea nitrogen of children before treatment and after 6 months treatment were observed and compared between the two groups.The treatment effects and adverse reactions of patients were observed and compared between the two groups.Results There was no statistic difference in the 24 h urine protein,urine red blood cells count,serum albumin,blood creatinine and blood urea nitrogen levels of children between the two groups before treatment (P ＞ 0.05).The 24 h urinary protein and urine red blood cells count of children after 6 months of treatment in the two groups were significantly lower than those before treatment (P ＜ 0.05);there was no statistic difference in the serum albumin,serum creatinine and blood urea nitrogen levels of children in the two groups before treatment and after 6 months of treatment (P ＞ 0.05).Mter 6 months of treatment,the 24 h urine protein and urine red blood cells count of children in TAC group were significantly lower than those in the CTX group (P ＜ 0.05);there was no statistic difference in the serum albumin,serum creatinine and blood urea nitrogen levels of children between the two groups (P ＞ 0.05).After 6 months treatment,the effective rate of children in the TAC group was significantly higher than that in the CTX group (x2 =4.607,P ＜ 0.05).The incidence of adverse reactions of children in the TAC group was significantly lower than that in the CTX group (x2 =4.043,P ＜ 0.05).Conclusion TAC is effective in treatment of Henoch-Sch(o)nlein purpura nephritis in children.It is easy to take,and has less adverse reactions.
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Objective To investigate expression of 4-1BB and lymphocyte subsets in peripheral blood of children with acute infectious lymphocytosis. Methods Flow cytometry (FCM) was applied to detect the expression of 4-1BB and lymphocyte subsets in peripheral blood of 15 cases of acute infectious lymphocytosis and 20 cases of acute upper respiratory infection, and 20 healthy children. Results The expression of 4-1BB and CD3+, CD4+and CD8+lymphocytes were higher in acute infectious lymphocytosis group than those in acute upper respiratory infection group and healthy control group (P0.05). A positive correlation was found between 4-1BB expression and CD3+ lymphocytes expression in acute infectious lymphocytosis group (r=0.73, P<0.05). Conclusions The abnormal expression of 4-1BB may play a pathological role in the development of acute infectious lymphocytosis. T cells in chil-dren with acute infectious lymphocytosis may not function to activate B cells.
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<p><b>OBJECTIVE</b>To investigate the clinical and biological characteristics of childhood acute myeloid leukemia(AML)with 8;21 translocation.</p><p><b>METHODS</b>A retrospective analysis including clinical information, cell morphology, chromosome, immunophenotype and molecular biology was performed on 41 cases of childhood t(8;21)AML. The control group included 19 cases of AML without t(8;21) translocation detected during the same period.</p><p><b>RESULTS</b>The 41 cases of t(8;21)AML accounted for 68.3% of 60 continuous childhood AML patients. Among them, classical t(8;21) translocation was seen in 29 cases; variant t(8;21) translocation, simple 8q-, near-tetraploidy characterized by the duplication of t(8;21) translocation each came into view in 2 cases; and cryptic t(8;21) translocation was seen in 6 cases. Thirty seven cases (80.4%) belonged to M2 subtype of AML. Most of them had the morphological changes such as the leukemia cells' indent nucleus with a light stain region of perinucleus, basophilic cytoplasm, differentiation with maturation, megaloblastoid changes and nuclear-cytoplasm imbalance; the high expression of CD13 antigen; and the AML1/ETO fusion transcript in 23 cases examined by reverse transcription-polymerase chain reaction (RT-PCR) assay, including 6 cases with normal karyotype. The difference in complete remission rate between t(8;21) positive patients group and t(8;21) negative patients group was not significant in statistics (82.4% vs 75%, P>0.05). However the difference in recurring rate of the leukemia was statistically significant (10.7% vs 41.7%, P<0.05).</p><p><b>CONCLUSION</b>t(8;21)AML is the most frequent type of childhood AML. It is predominantly associated with M2 subtype of AML and has unique morphological, immunological prognostic features .</p>