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Objective:To assess the efficacy of Rituximab (RTX) in treating children with refractory nephro-tic syndrome.Methods:A retrospective study was carried out.Twenty-two children diagnosed with refractory nephrotic syndrome in the Department of Nephrology of Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology from November 2018 to November 2020 were included in the study.All patients were treated with RTX.Patients with CD 19+ B lymphocytes≥1% total lymphocytes in peripheral blood were supplemented with one dose of RTX (375 mg/m 2), and each patient received 3-4 doses of RTX on average.The patients were treated with Mycophenolate mofetil after early discontinuation of calcineurin inhibitors (CNI). The Kaplan-Meier method was used to analyze the proteinuria relapse-free rate and the incidence of frequently recurrent nephrotic syndrome or steroid-dependent nephrotic syndrome in children after RTX treatment.The relapse times before and after using RTX were analyzed by the Wilcoxon signed rank test.Besides, the body mass indexes (BMI) and height of children before and after RTX treatment were compared by the rank sum test. Results:Of 22 patients studied, 20 patients accomplished the therapeutic protocol.One-year and two-year proteinuria relapse-free survival rates were 85% and 40%, respectively.The recurrence rate was reduced under the discontinuation of CNI.Compared with those before RTX treatment, the BMI and height of all children were significantly improved at 1 year and 2 years after RTX treatment (all P<0.05). However, no significant improvement was observed between 1 or 2 years after RTX treatment (all P>0.05). Conclusions:The use of RTX can effectively reduce the recurrence rate of refractory nephrotic syndrome even when hormones and other immunosuppressants are discontinued.At the same time, RTX can significantly improve the BMI and height of children.RTX is safe and effective for treatment of refractory nephrotic syndrome.
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Objective:To investigate and analyze the clinical phenotypes and genotypes in children diagnosed with nephronophthisis (NPHP), and to provide references for clinical diagnosis.Methods:Clinical data of 9 children with NPHP diagnosed by genetic testing in the Department of Nephrology, Wuhan Children′s Hospital from April 2017 to January 2022 were retrospectively collected. The clinical characteristics and genetic test results were analyzed.Results:The median onset age was 11.2(3.4, 14.2) years old in 9 patients, including 5 females and 4 males. There were 8 cases of glomerular proteinuria, 8 cases of renal tubular proteinuria, and 7 cases of reduced urinary gravity in 9 patients. All the children had varying degrees of impaired renal function at the time of diagnosis. Seven cases entered chronic kidney disease (CKD) stage 5, 1 case entered CKD stage 3, and 1 case entered CKD stage 4 at the time of diagnosis. All the children had renal ultrasound abnormalities of varying degrees: size change (3/9), echo enhancement (8/9) and cysts (3/9). Extrarenal phenotypes were present in 3 children. Genetic test showed that 6 patients had mutation of NPHP1 gene, 1 patient had mutation of WDR19 gene, 1 patient had mutation of NPHP3 gene and 1 patient had mutation of NPHP5 gene. Conclusions:Deletion mutation of NPHP1 gene is the most common, while NPHP3, NPHP5 and extremely rare WDR19 mutations have also been found in NPHP patients. The clinical manifestations of NPHP are not typical, so it is necessary to find a specific diagnosis method in the early.
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Objective:To analyze the correlation between clinical phenotypes and genotypes in 6 children with primary distal renal tubular acidosis (dRTA).Methods:The clinical data of 6 children confirmed as dRTA in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Technology from November 2017 to August 2019 were collected, and related auxiliary examination was performed to assess their growth and development.The venous whole blood was reserved for Trio whole exome sequencing, and full spectrum genetic disease accurate diagnosis cloud platform was applied to systematic data screening and analysis.The suspected mutations were checked by Sanger sequencing, and then the role of protein was predicted by software.Results:Clinical manifestations, signs and auxiliary examination results of the 6 children accorded with the diagnostic criteria of dRTA, and the prominent characteristics was growth retardation.One case had knee valgus, one had osteoporosis, and the auxiliary examination results showed that both of them had alkaline urine, metabolic acidosis, and hypokalemia.Three children had nephrocalcinosis, and 2 children had nephrolithiasis.The parents of the 6 patients were all normal without phenotypes.Mutations in the SLC4A1 gene were identified in 4 patients, including 1 child with a reported homozygous autosomal recessive missense mutation(c.2102G>A, p.G701D), who had dRTA and hemolytic anemia, and 3 children with the reported de novo heterozygous autosomal dominant missense mutation(c.1766G>A, p.R589H, c.1765C>T, p.R589C), whose age at diagnosis was related to abnormal renal imaging.Compound heterozygous autosomal recessive mutations in the ATPV1B1 gene were identified in 1 patient, and they were novel heterozygous missense mutations (1153C>A, p.P385T and c. 806C>T, p.P269L). A novel homozygous autosomal recessive missense mutation was identified in 1 patient in the ATPV0A4 gene(c.1899C>A, p.Y633X, 208). Conclusions:Mutations in SLC4A1, ATP6V1B1, ATP6V0A4 genes are identified as the main causes of the primary dRTA, and the phenotypes was related to the mutation features and genotypes.Genetic test should be conducted on patients suspected as dRTA for early molecular diagnosis, thereby improving clinical phenotypic screening and individualized treatment.
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Objective To study the efficacy of sequential blood purification treatment of bee poisoning complicated by multiple organ disfunction syndrome (MODS).Methods The 11 cases of children with bee poisoning and MODS from Wuhan Children's Hospital were treated with sequential blood purification therapy,and they were treated with plasma exchange (PE),hemoperfusion (HP) and sequential continuous renal replacement therapy (CRRT) simultaneously in the early stage,and then were treated with intermittent hemodialysis (IHD) in the remission stage.Different modes of purification treatment were applied in different stages.The trends of liver function,renal function and myocardial enzymes were observed in 11 cases before and after therapy,later a retrospective analysis was performed,and the efficacy of sequential blood purification was studied.Results Ten in 11 cases of children were treated with HP,CRRT and IHD therapy,and among them 6 cases were treated with PE on the first day of admission.One case,the youngest of children admitted to hospital less than 24 hours,died of sudden cardiac arrhythmia due to toxic myocarditis.In ten cases of the children after treatment,their myocardial enzymes returned to normal at first,and then jaundice and hepatic function improved,and renal function gradually improved after 10 days.Two weeks after discharge,through reviewing of the liver and kidney function,myocardial enzymes returned to normal indicators.In review of urine,5 cases were accompanied with microscopic hematuria,3 cases were accompanied with hematuria and proteinuria,and 2 cases were completely normal.The improved cure rate was 91％ (10/11 cases).Conclusions Sequential blood purification treatment is the main and effective means for severe bee poisoning complicated with MODS in children in the early stage.
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Objective To observe the effect of budesonide/doxofylline on patients with persistent asthma. Methods Sixty patients with moderate asthma were randomly divided into treatment group and control group. Patients in treatment group accepted the inhalation budesonide 400μg/d and doxofylline tablet 0.2 bid po but those in control group accepted the inhalation budesonide/formoterol 160/4.5μg bid. FeNO, sputum eosinophils, PEF and ACT scores were compared between two groups. Results PEF and ACT scores in treatment group were lower to those in control group (P0.05). After three months, sputum eosinophils in treatment group were better than that in control group (P0.05). Conclusion There is no significant difference in controlling asthma between budesonide/doxofylline and budesonide/formooterol
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Objective To study the relationship of insulin-like growth factor-Ⅰ receptor(IGF-ⅠR)and carcinogenesis of gastric cancer.Methods The expression of IGF-ⅠR was detected in 40 cases of resected gastric cancer tissues and adjacent normal gastric mucosa by immunohistochemistry.The expression of IGF-ⅠR in gastric cancer cell lines(MGC803 and SGC7901)was detected by Western Blot.siRNAs targeted to IGF-ⅠR were designed,synthesized and transfected into MGC803 cells,the changes of IGF-IR protein level were detected by Western Blot at 48 h after transfection,the cell proliferation was examined by MTT,and then the growth curve was obtained.Results The positive rate of IGF-IR expression in gastric cancer tissues was 75.5%,significantly higher than that of adjacent normal tissues (25%,P＜0.01).The expression level of IGF-IR was related with TNM stage,lymphnode metastasis (P＜0.05),but not related with sex,age,histological differentiation,invasion depth of gastric cancer (P＞0.05).Intense expression of IGF-ⅠR was showed in gastric cancer cell lines.The inhibition ratio of IGF-ⅠR expression in sigNAl group were 89.80%±4.10%,the cell proliferation decreased to mininlunl level at the fifth day aftertransfection(by 29.0%±4.0%of mock-treated group),the cell number decreased by 21.15%±1.10%of mock treated group at the same time.Conclusions IGF-ⅠR is over-expressed in gastric cancer cells and can be effectively silenced by RNA interferes,therefore the growth of tmnor cell Was inhibited.Thus,it indicates that IGF-ⅠR may be a promising target for gene therapy of gastric cancer.