Table of Content

15 November 2024 Volume 42 Issue 11

  

Original Article

Characteristic analysis of acute brucellosis in children with abnormal transaminase

JIA Yanhong, GUO Fang, WU Xiaoyuan, JIA Li, ZHAO Xin, LI Wenhui

Journal of Clinical Pediatrics. 2024, 42(11):  907-911.  doi:10.12372/jcp.2024.23e0662

Abstract ( )   HTML ( )   PDF (1215KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective The purpose of this study was to investigate the clinical characteristics of acute brucellosis with abnormal transaminase in children. Methods The data of 43 patients diagnosed with brucellosis from January 2015 to December 2021 were analyzed retrospectively. Based on transaminase values, the patients were divided into 2 groups: abnormal transaminase group and normal transaminase group. The clinical manifestations and laboratory indexes of two groups were analyzed. Result Abnormal transaminase was found in 74.41% of study group and mainly consist of mild and moderate abnormalities. The proportion of splenomegaly in abnormal transaminase group was higher than that in normal transaminase group (P<0.05). In the patients who had abnormal transaminase, the hemoglobin and platelet values were lower, and the blood culture positive rate were higher (P<0.05). The proportion of CD3⁺CD4^-CD8^-T cells was significantly higher than that of normal transaminase group (P<0.05) and the percentage of CD3⁺CD4^-CD8^-T cells was positively correlated with ALT and AST values (r=0.601, 0.466). The recovery time of transaminase was 1-3 weeks for mild abnormal transaminase, and 3-6 weeks for moderate and severe abnormal transaminase. Conclusion The proportion of children with acute brucellosis complicated with abnormal transaminase is higher, with mild and moderate abnormalities being predominant. Acute brucellosis complicated with abnormal transaminase in children has a favorable prognosis. Percentage of CD3⁺CD4^-CD8^-T cells may be related to abnormal transaminase in children with acute brucellosis.

Analysis of prodromal events in pediatric patients with anti-N-methyl-D-aspartate receptor encephalitis

WU Wenlin, HOU Chi, ZHENG Kelu, ZHANG Yani, ZENG Yiru, CHEN Lianfeng, ZHU Haixia, TIAN Yang, PENG Bingwei, WANG Xiuying, LIAO Yinting, CHEN Wenxiong, LI Xiaojing

Journal of Clinical Pediatrics. 2024, 42(11):  912-916.  doi:10.12372/jcp.2024.23e1027

Abstract ( )   HTML ( )   PDF (1208KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To analyze the correlation between anti N-methyl-D-aspartate receptor (NMDAR) encephalitis prodromal events and clinical features in children. Methods A retrospective analysis was conducted on 107 pediatric patients with anti-NMDAR encephalitis from January 2014 to March 2019, to examine the correlation between prodromal events and clinical characteristics in these children. Results Of the 107 patients, 52 cases (48.6%) had prodromal events, predominantly consisting of infectious prodromal events (73.1%, 38 out of 52). A comparative analysis revealed that patients with a history of intracranial infection as a prodromal event were significantly younger at onset (6.0±4.7 years) compared to those without such a history (6.4±2.9 years, P=0.006). Additionally, these patients had a markedly higher incidence of limb paralysis (P=0.038) and sleep disorders (P=0.037). The hospital stay was prolonged for patients with intracranial infection prodromal events (P=0.001). Furthermore, these patients exhibited higher modified Rankin Scale (mRS) scores prior to treatment (P=0.008) and required more courses of intravenous immunoglobulin (IVIG) treatment (P=0.011). Conclusions Pediatric patients with anti-NMDAR encephalitis and prodromal events, particularly those with intracranial infections, displayed distinct clinical profiles. They were more likely to present at an earlier age with increased rates of limb paralysis and sleep disorders, necessitating longer hospital stays and additional IVIG treatments.

Analysis on clinical characteristics and treatment for Kasabach-Merritt phenomenon in 36 children with hemangioma

HUANG Shihao, YUAN Xiaojun

Journal of Clinical Pediatrics. 2024, 42(11):  917-921.  doi:10.12372/jcp.2024.23e1206

Abstract ( )   HTML ( )   PDF (1678KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To analyze the clinical characteristics of pediatric hemangioma patients with Kasabach-Merritt phenomenon (KMP), and sum up its treatment experience. Methods The clinical data of children with KMP diagnosed from April 1, 2006 to December 31, 2021 were retrospectively analyzed. Results A total of 36 children with hemangioma were accompanied by KMP, accounting for 0.6% of the children with hemangioma. Five patients (13.9%) showed typical clinical manifestations of KMP in the early stage of the disease; 26 patients (72.2%) had superficial tumors with small lesions; 4 patients (11.1%) had deep-seated tumors with relatively larger lesions; 1 patient (2.8%) presented with hematochezia as the initial symptom, and the tumor was not detected. Median follow-up time was 86 months. All patients manifested thrombocytopenia at the time of diagnosis and the median platelet counts were 24.5(11.8-43.5)×10⁹/L, which increased to 168.0(101.8-314.5)×10⁹/L after treatment. Twenty-four patients (66.7%) received combined therapy, all of them got complete remission (CR). Twelve patients (33.3%) received monotherapy, of them, five patients got CR, three got partial remission (PR), four showed no response. The overall CR rate was 80.6%, PR rate was 8.3%, and NR rate was 11.1%. The 7-year overall survival rate was 88.9% and the fatality rate was 11.1%. Conclusions The masking of symptom was the characteristics of KMP. Appropriate laboratory testing should be performed as soon as possible for patients with dysfunction of blood coagulation or rapidly progressive hemangiomas.

Characteristic of obstructive sleep apnea hypopnea syndrome high risk population in children with bronchial asthma

ZHU Wenjing, GU Qinglong, LIU Chuanhe, SHA Li, HUANG Guimin, LU Yingxia, ZHAO Jing, CHEN Yuzhi

Journal of Clinical Pediatrics. 2024, 42(11):  922-926.  doi:10.12372/jcp.2024.23e1164

Abstract ( )   HTML ( )   PDF (1210KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective This study aimed to explore the clinical characteristics of children with asthma who were at high risk of developing obstructive sleep apnea syndrome (OSAS). Methods A questionnaire survey among outpatient pediatric asthmatic children were conducted from September 2019 to January 2021. Children were categorized into an OSAS high-risk group and a control group based on responses to the questionnaire. Results A total of 200 asthmatic children were included, with 41.00% falling into the OSAS high-risk category. More uncontrolled asthmatic patients were found OSAS high-risk children (60.00% vs. 36.25%, χ²=7.46, P=0.006). Additionally, children in the OSAS high-risk group experienced a higher incidence of nocturnal asthma attacks (20.73% vs. 6.78%, P<0.05) and exercise-induced asthma symptoms (26.83% vs. 13.56%, P<0.05). The prevalence of adenoid hypertrophy was also greater in the OSAS high-risk group (35.37% vs. 8.47%, P<0.05), along with more severe symptoms of allergic rhinitis (P<0.05). Conclusion Children with asthma who are at high risk for OSAS are more likely to exhibit poorly controlled asthma, severe symptoms of allergic rhinitis, and a higher incidence of adenoid hypertrophy.

Characteristics of lung function in preschool asthmatic children

YI Liangqin, YANG Jingyi, ZHAO Yan, ZHANG Xi, HE Yiting, TIAN Xiaoyin, ZHANG Guangli, LIU Sha, LUO Zhengxiu

Journal of Clinical Pediatrics. 2024, 42(11):  927-934.  doi:10.12372/jcp.2024.23e0356

Abstract ( )   HTML ( )   PDF (1313KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate the distribution characteristics of spirometry in preschool asthmatic children and further analyze its characteristics. Methods The clinical information and lung function results of preschool asthmatic children who were initial diagnosed from January 2019 to December 2020 were retrospectively collected. Latent profile analysis (LPA) was applied to analyze the category features of spirometry parameters distribution. The ordinal logistic regression analysis was used to analyze the relationship between the difference factors and category features of spirometry. Results A total of 851 preschool asthmatic children were included in this study, with a median age of 4.3 years. Latent profile analysis of spirometry parameters (FEV₁, FEV₁/FVC, FEF₅₀, FEF₇₅ and FEF_25~75, %pred) fitted four categories of spirometry parameters distribution curves: above-normal lung ventilation function group (118 cases, 13.9 %), normal lung ventilation function group (269 cases, 31.6 %), small airway function decreased group (297 cases, 34.9 %) and small airway dysfunction group (167 cases, 19.6 %). Spirometry parameters values showed a downward trend among the four category groups, with statistically significant differences in small airway function parameters among groups (P<0.001). Compared with the above-normal lung ventilation function group and the normal lung ventilation function group, patients in the small airway dysfunction group were older (P<0.001), had a higher proportion of eosinophilia (P=0.040) and severe airway hyperresponsiveness (AHR, P<0.001). The ordinal logistic regression analysis showed blood eosinophilia (P=0.036), moderate airway hyperresponsiveness (P=0.008), and severe airway hyperresponsiveness (P<0.001) were positively correlated with small airway dysfunction in preschool asthmatic children. Conclusions The distribution characteristics of spirometry parameters in preschool asthmatic children can be categorized into four types: above-normal lung ventilation function, normal lung ventilation function, small airway function decreased and small airway dysfunction. Blood eosinophilia and airway hyperresponsiveness are associated with small airway dysfunction in preschool children with asthma.

Clinical characteristics and TSC1/TSC2 genetic variation analysis in 45 cases of tuberous sclerosis

MEI Daoqi, ZHANG Bingbing, TANG jihong, WANG Yuan, WANG Li, MEI Shiyue, GAO Chao, WANG Xiaona, MA Yuanning, DONG Shijie

Journal of Clinical Pediatrics. 2024, 42(11):  935-941.  doi:10.12372/jcp.2024.23e0885

Abstract ( )   HTML ( )   PDF (1346KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective This study aims to summarize the clinical features and TSC1/TSC2 gene variation analysis of 45 cases of tuberous sclerosis complex (TSC) diagnosed through genetic analysis, thereby enhancing the understanding of the disease. Methods Retrospectively collected and summarized clinical data of 45 children diagnosed with TSC associated with TSC1/TSC2 gene mutations and epilepsy from January 2018 to October 2021. Results Of the 45 children, 44 exhibited epilepsy, with 25 presenting with infantile spasms, 23 with generalized tonic-clonic seizures, 8 with myoclonic seizures, 6 with atonic seizures, 5 with dystonic seizures, and 20 with focal seizures. All patients showed skin depigmentation, with 6 presenting hemangiomas in the facial region. Cognitive impairment was observed in 25 cases, while 12 exhibited developmental delays. 6 had cardiac rhabdomyomas, 8 had renal cysts, 1 had polycystic kidneys, and 8 had retinal hamartomas. Genetic analysis revealed 15 patients with heterozygous mutations in the TSC1 gene (8 de novo and 7 inherited), including 4 frameshift mutations, 7 nonsense mutations, 2 missense mutations, and 2 splice mutations. In addition, 30 patients had heterozygous mutations in the TSC2 gene (21 de novo and 9 inherited), comprising 7 frameshift mutations, 4 nonsense mutations, 7 missense mutations, 3 whole-gene mutations, 7 splice sito mutations, 1 largo segmental deletion, and 1 extended mutotion. Notably, 1 TSC1 mutation and 10 TSC2 mutations were novel findings. Conclusion TSC presents with a diverse range of clinical symptoms, and the genotype-phenotype correlation is complex. Early genetic analysis of TSC1/TSC2 is essential for timely diagnosis and targeted treatment in suspected cases.

Clinical characterization of five children with 17p13.3 microdeletion syndrome and evaluation of their efficacy

WANG Libo, ZHANG Qianwen, YAO Ruen, TANG Yijun, GAO Shiyang, LI Zhiying, HU Feihan, LI Xin, LOU Dan, WANG Xiumin

Journal of Clinical Pediatrics. 2024, 42(11):  942-947.  doi:10.12372/jcp.2024.23e1051

Abstract ( )   HTML ( )   PDF (2230KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective The aim of this study was to explore the clinical manifestations, genetic copy number variations, therapeutic responses, and prognostic factors associated with 17p13.3 microdeletion syndrome in pediatric patients. Methods A retrospective analysis was conducted on the clinical profiles, whole exome sequencing data, and therapeutic outcomes of five pediatric cases diagnosed with 17p13.3 microdeletion syndrome. Results All 5 patients presented with short stature, and those in cases 3 to 5 also exhibited cardiovascular abnormalities. Whole exome sequencing identified a 433kb to 1536kb deletion within the 17p13.3 chromosomal region, predominantly affecting the YWHAE and CRK genes without implicating the PAFAH1B1 gene. Following the exclusion of contraindications, cases 1 to 4 were administered recombinant human growth hormone (rhGH). While the initial response to rhGH treatment was promising with improvements in height, the long-term efficacy was suboptimal. Cases 4 and 5 underwent surgical correction for congenital heart disease as indicated. Conclusion Deletion of 17p13.3 can result in 17p13.3 microdeletion syndrome. Whole exome sequencing is instrumental in the prompt diagnosis of children exhibiting signs of congenital heart disease and/or short stature. Timely and appropriate interventions for cardiovascular and height-related issues are essential for improving the overall prognosis of affected children.

Clinical analysis and follow-up of rehabilitation training of X-linked intellectual disability caused by DDX3X gene variation: a report of three cases

XIA Qin, GU Qin, CHEN Ting, ZHANG Hewei, HUO Hongliang, CAO Xujun, WANG Weiwei, JI Yongchun

Journal of Clinical Pediatrics. 2024, 42(11):  948-954.  doi:10.12372/jcp.2024.23e1018

Abstract ( )   HTML ( )   PDF (2003KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To summarize the clinical and genetic characteristics of X-linked intellectual disability (XLID) caused by DDX3X gene variation. Methods The clinical data of 3 children with XLID caused by DDX3X gene variation who were treated in the rehabilitation department from January 2018 to April 2021 were retrospectively analyzed. Results Case 1 was a boy aged 8 months and 23 days, case 2 was a girl aged 6 months, and case 3 was a girl aged 1 year and 6 months. All the three patients presented with total growth retardation, special facial features and muscle dystonia at the first visit. The whole exome sequencing showed that case 1 had a splicing mutation of C. 1025+3A>C (p?) in the DDX3X gene. The site was heterozygous in the mother and wild-type in the father. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant was of unknown clinical significance. After RT-PCR and Sanger verification, it was found that this mutation could cause partial retention of intron 10 and partial skipping of exon 10, suggesting that the mutation might be a candidate site for abnormal gene function, and this site has not been reported. Patient 2 had a deletion mutation of c.1535-1536delAT (p.H512Rfs*5), which was wild-type in both of her parents. According to ACMG guidelines, this mutation was a de novo pathogenic mutation. In child 3, a splicing mutation of c.679+2T>G was found in the intron 7 region of DDX3X gene. Both of her parents had wild type at this site, and this mutation was a de novo pathogenic mutation. Conclusions In this study, three new DDX3X gene mutation sites were reported for the first time in China and one of them was verified as a candidate site for splicing mutation. Above findings have enriched the mutation spectrum of DDX3X gene and provided a basis for clinical diagnosis and genetic counseling.

Analysis of factors influencing dietary changes in children undergoing allogeneic hematopoietic stem cell transplantation

YAN Mei, TANG Weibing, FANG Yongjun, HUANG Jie, ZHU Ting, FU Jinyu, XIA Xiaona, LIU Changwei, WAN Yuanyuan, PAN Jian

Journal of Clinical Pediatrics. 2024, 42(11):  955-961.  doi:10.12372/jcp.2024.23e1246

Abstract ( )   HTML ( )   PDF (1182KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate influencing factors of dietary changes in children undergoing allogeneic hematopoietic stem cell transplantation (alloHSCT) and to analyze the correlation between reduced dietary intakes and clinical outcomes during hospitalization. Methods We collected data of 144 children undergoing alloHSCT from hospital between April 2018 and August 2023. Dietary intakes and nutritional status were assessed prior to transplantation and on day 0, +14 and +30 after alloHSCT. The relationship between post-transplant clinical outcomes and dietary intakes was analyzed using Spearman correlation analysis. Results The baseline energy intake was 1315.20 (922.15-1600.88) kcal/d, representing 90.85% (80.10%-103.00%) of the dietary reference intakes (DRIs). On day 0, +14 of transplantation, the calorie intake decreased to 344.95 (66.85-532.50) kcal/d and 377.90 (108.43-689.40) kcal/d, the percentage of dietary caloric intake in DRIs decreased to 25.50% (4.20%-46.25%) and 23.50% (7.21%-50.08%), respectively. The intake of macronutrient also significantly decreased. By day +30 post-transplantation, dietary intake and macronutrient increased, with dietary intake increased to 721.45 (285.75-1252.25) kcal/d, accounting for 58.00% (21.50%-81.92%) of DRIs (P<0.001 ). The generalized estimation equation analysis showed that age (P<0.001), oral mucositis (P=0.023), Ⅱ-Ⅳ acute graft versus host disease (aGVHD, P<0.001), length of cumulative febrile episodes (P=0.005), and a high risk of STAMP before transplantation (P=0.026) were significant influencing factors for changes in dietary intake. The negative correlation between dietary intake of children undergoing alloHSCT and decrease in BMI-Z, length of hospital stay, and inpatient treatment costs was observed, with r values of (-0.516, -0.238, -0.465) and P values of (<0.001, 0.011, <0.001) respectively. Conclusion After alloHSCT, dietary intake and macronutrient of children with varying nutritional status, disease diagnosis, and transplant types significantly decreased. This reduction in dietary intake was associated with adverse clinical outcomes. Attention should be given to the changes in dietary intake and macronutrient in all children post-transplantation, especially for those of older age, high risk of STAMP, or with oral mucositis, Ⅱ-Ⅳ grade aGVHD, and severe infection. Timely and effective nutritional interventions are essential.

Application of subjective global nutritional assessment tool (SGNA) in the nutritional assessment of hospitalized children with neurologically impairment

CHEN Gongxun, ZHU Dengna, WANG Yumei, YOU Jie, CHENG Zhiwei, ZHANG Guangyu, LI Sansong, YANG Lei, WANG Mingmei, ZHAO Yunxia, WANG Ruixia

Journal of Clinical Pediatrics. 2024, 42(11):  962-967.  doi:10.12372/jcp.2024.23e0898

Abstract ( )   HTML ( )   PDF (1239KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective This study aimed to investigate the correlation between the Subjective Global Nutritional Assessment Tool (SGNA) and anthropometric measurements, as well as to evaluate its clinical efficacy in assessing the nutritional status of hospitalized children with neurological impairments. Methods A retrospective analysis of 1466 pediatric patients with neurological impairments admitted to the Department of Children’s Rehabilitation were conducted from January 2019 to October 2019. Nutritional status was evaluated using the SGNA, and its effectiveness was corroborated against the World Health Organization's recommended anthropometric Z-score method. Results The prevalence of moderate and severe malnutrition, as well as overall malnutrition, as determined by SGNA, were 15.14%, 3.27%, and 18.41%, respectively. In comparison, the rates identified using weight-for-height Z-score (WHZ), weight-for-age Z-score (WAZ), height-for-age Z-score (HAZ), and composite Z-score were 9.69%, 12.48%, 10.10%, and 21.56%, respectively. When using WAZ as the benchmark, the sensitivity, specificity, and Youden’s index for SGNA were 86.62%, 88.90%, and 0.76, respectively. With the composite Z-score as the reference, these values were 57.28%, 92.27%, and 0.50, respectively. A moderate level of agreement was observed between SGNA and both WHZ and the comprehensive Z-score (Kappa values of 0.53 and 0.523, both P<0.001). The SGNA assessment demonstrated significant correlations with both the WAZ and WHZ, with correlation coefficients of -0.52 and -0.45, respectively. Conclusion The SGNA emerges as a comprehensive nutritional assessment instrument that surpasses anthropometry in scope and can be reliably utilized for nutritional assessment in children with neurological impairments.

The value of cardiopulmonary ultrasound in predicting withdrawal of mechanical ventilation in neonates with meconium aspiration syndrome and persistent pulmonary hypertension

ZHANG Pei, LIU Hongyan, WANG Hui, XIA Shiwen

Journal of Clinical Pediatrics. 2024, 42(11):  968-974.  doi:10.12372/jcp.2024.24e0401

Abstract ( )   HTML ( )   PDF (1276KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate the value of cardiopulmonary ultrasound in predicting the withdrawal of mechanical ventilation in neonates with meconium aspiration syndrome (MAS) and persistent pulmonary hypertension of the newborn (PPHN). Methods The clinical data of patients diagnosed with MAS and PPHN who were treated with mechanical ventilation in neonatal intensive care unit from December 2022 to December 2023 were retrospectively analyzed. Results A total of 60 patients (36 boys and 24 girls) were included, and the average gestational age was (37.7±2.0) weeks. There were 12, 22 and 26 cases of mild, moderate and severe pulmonary hypertension, respectively. According to the weaning outcomes, 42 patients were included in the successful group and 18 were included in the failed group. When the ventilator was removed, compared with the failed group, the successful group had lower pulmonary ultrasound scores, lower pulmonary artery systolic pressure and higher left ventricular ejection fraction, with statistical significance (P<0.05). In both the successful and failed group, there were statistically significant differences in lung ultrasound scores, PaCO₂, PaO₂, OI, pulmonary artery systolic pressure, peak displacement of tricuspid annular contraction, peak velocity of tricuspid annular contraction, and left ventricular ejection fraction between before mechanical ventilation and the day of withdrawal (P<0.05). Multivariate logistic regression analysis showed that elevated pulmonary ultrasound score and pulmonary artery systolic pressure were independent risk factors, while elevated left ventricular ejection fraction was independent protective factor for withdrawal failure of patients with MAS and PPHN (P<0.05). The lung ultrasound score, pulmonary artery systolic pressure, left ventricular ejection fraction, and the combination of the three indicators had AUC values of 0.85, 0.76, 0.75, and 0.93 for the purpose of predicting withdrawal failure of mechanical ventilation in neonates with MAS and PPHN, respectively. Conclusions Cardiopulmonary ultrasound has a certain value in predicting the withdrawal of mechanical ventilation in neonates with MAS and PPHN. In clinical practice, pulmonary ultrasound score, pulmonary artery systolic pressure and left ventricular ejection fraction can be combined with clinical manifestations for comprehensive evaluation.

Efficacy of Belimumab combined with traditional regimen in the treatment of active lupus nephritis in children

PENG Qianqian, YANG Huandan, YUAN Tingting, QIU Shan, LI Yan, ZHOU Suqin, LU Qian

Journal of Clinical Pediatrics. 2024, 42(11):  975-982.  doi:10.12372/jcp.2024.23e0911

Abstract ( )   HTML ( )   PDF (1256KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate the efficacy of combining Belimumab with traditional therapy in treating active lupus nephritis (LN) in children during the early induction period, and to provide a novel diagnostic and therapeutic framework for the future treatment of LN in children. Method Clinical data were collected from 58 children with active LN newly diagnosed from January 2018 to August 2021. Participants were divided into observation group (32 cases) and control group (26 cases) based on the use of Belimumab in the induction stage. Serum biochemical markers(ALB, BUN, Cr, eGRF), immune markers (IgG, C3, C4, CD19⁺B count, anti-nuclear antibody), along with urinary microalbumin, urinary protein quantity at at 24h and SLEDAI-2K score were were assessed at baseline and after 4, 12, and 24 weeks of treatment. The compliance rate, recurrence rate and glucocorticoid dosage of the two groups were also followed up. Results No significant differences were found in renal pathological type and traditional treatment between the two groups (P>0.05), there were no significant differences in blood ALB, BUN, CR, C3 and C4 between the two groups(P>0.05). However, statistically significant differences were observed among all groups (P<0.05).The eGFR was higher in the observation group at 4 and 12 weeks, but no statistically significant difference was noted between the two groups (P>0.05). After 12 and 24 weeks of treatment,urinary microalbumin and urinary protein quantity at 24h were significantly reduced compared to the control group, with statistical significance (P<0.05); intergroup comparisons also showed significant differences (P<0.05). In the observation group at 24 weeks, the CD19⁺B cell count decreased from 653 (438-933.25) cells/μL to 45 (30.50-66.50) cells/μL, IgG decreased from 14.84 (12.03-17.64) g/L to 5.45 (5.11-5.79) g/L. The positive rate of anti-nuclear antibodies decreased from 100% to 46.87%, SLEDAI-2K score reached disease-free activity status. The complete remission rate (87.50%) and total efficiency (93.75%) in the observation group were significantly higher than those in the control group (65.38% and 84.62%, respectively), with statistical significance (P<0.05). The glucocorticoid dosage was reduced to 5 mg/d in 87.50% of children in the observation group after 24 weeks, compared to 76.92% in the control group, with statistically significant differences (P<0.05). After 2 years follow-up, the compliance rate in the observation group (93.75%) was significantly higher than that in the control group (61.54%), while the recurrence rate (6.25%) was lower than that of the control group (30.77%), with statistical significance (P<0.05). Conclusion The combination of Belimumab and traditional therapy is effective in treating active LN in children during the induction period. This approach alleviates proteinuria, improves disease activity in systemic lupus erythematosus (SLE), facilitates early glucocorticoid reduction, and enhances overall outcomes, demonstrating superior efficacy compared to traditional therapy alone.

Continuing Medical Education

Advances in digenic Alport syndrome

ZHANG Hongwen

Journal of Clinical Pediatrics. 2024, 42(11):  983-986.  doi:10.12372/jcp.2024.23e1125

Abstract ( )   HTML ( )   PDF (1191KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Digenic Alport syndrome (AS) refers to two pathogenic variants in different genes of COL4A3, COL4A4 and COL4A5. This condition is categorized into two subtypes: one subtype results from a pathogenic variant in COL4A5 combined with another in either COL4A3 or COL4A4, while the other subtype arises from pathogenic variants in both COL4A3 and COL4A4. Although digenic AS is hypothesized to exhibit more pronounced clinical manifestations, particularly with respect to proteinuria and renal impairment, definitive evidence necessitates additional multicenter, large-sample studies for validation.