2例原发肾病综合征男童，因激素耐药、联合钙调蛋白磷酸酶抑制剂和CD20单抗治疗6个月以上，仍未能使蛋白尿转阴。在清除B细胞后加用达雷妥尤单抗治疗。例1肾脏病理为局灶节段性肾小球硬化，达雷妥尤治疗2周后尿蛋白部分缓解，治疗4周后停糖皮质激素、12周停环孢素，末次随访尿蛋白定量0.18 g/d。例2肾脏病理为轻系膜增生肾小球病伴足细胞病，达雷妥尤治疗2周后尿蛋白转阴，治疗5周后停糖皮质激素、8周后停他克莫司。
肾钙质沉着症（NC）与肾结石是一组病因高度异质的肾脏及代谢疾病共同具有的特征性影像学改变。NC以草酸钙和磷酸钙等晶体在肾实质内异常聚积为特征，持续的晶体沉积可演变为Randall斑，形成肾结石。儿童此类疾病多源于遗传性肾小管及代谢疾病。遗传性NC和肾结石缺乏特异性治疗方案，可引起肾小管间质纤维化，其危害在临床上易被低估。本文系统综述了遗传性NC和肾结石的形成病因、病理生理机制和诊治策略进展，以期实现早诊早治，改善患儿长期预后。
Objective: To investigate the clinical outcomes and prognostic factors in children with Mycoplasma pneumoniae necrotizing pneumonia (MPNP) at 1 year after discharge. Methods: This prospective cohort study enrolled 60 children with MPNP treated at the Department of Respiratory Medicine, Children's Hospital of Fudan University, between August 2023 and December 2024. Clinical, laboratory, and radiological data were collected during hospitalization. All patients were followed up for one year post-discharge, with serial assessments of symptoms, chest CT, and pulmonary function. Based on final CT findings, patients were categorized into good and poor prognosis groups. Univariate analysis, Lasso regression, and multivariate Logistic regression were used to identify independent predictors and construct a prediction model. Results: Among the 60 children (28 males, 32 females; age at presentation 6.0 (5.0, 8.0) years), 38 cases had good prognosis and 22 cases had poor prognosis. Compared with the good prognosis group, the poor prognosis had significantly higher proportions of acute-phase respiratory failure, intensive care unit admission, poor distal ventilation on bronchoscopy, necrotic cavity diameter ≥2 cm on imaging, ≥2/3 single-lobe involvement, multilobar consolidation, and moderate-to-large pleural effusion, as well as greater numbers of involved lobes and total CT scores (all P<0.05). At the 1-year follow-up, atelectasis occurred in all 22 cases (100.0%) in the poor prognosis group, with pulmonary cavity formation in 3 cases (13.6%) and abnormal pulmonary function in 8 cases (36.4%). Multivariate analysis identified poor distal ventilation on bronchoscopy (OR=9.29, 95%CI 2.03-60.46, P=0.003) and elevated lactate dehydrogenase (LDH) level (per 100 U/L increase, OR=2.16, 95%CI 1.42-3.90, P<0.001) as independent predictors of poor prognosis. The combined predictive model based on these two factors achieved an area under the curve of 0.93 (95%CI 0.87-0.99, P<0.001). Conclusions: A substantial subset of MPNP children still exhibit radiological sequelae and functional impairment one year after discharge. Acute-phase poor distal ventilation on bronchoscopy and markedly elevated serum LDH are independent predictors of poor prognosis. The prediction model combining these two factors demonstrates good discriminative ability.
Objective: To evaluate the efficacy and safety of lonafarnib, in children with Hutchinson-Gilford progeria syndrome(HGPS). Methods: This was a prospective cohort study. A total of 12 children with HGPS who were treated with lonafarnib at the Children's Hospital of Zhejiang University School of Medicine between April 2022 and November 2025 were enrolled. Clinical data collected within 1 week before initial medication were taken as the baseline. The first follow-up was performed 4 to 12 months after treatment initiation, with complete laboratory tests and imaging examinations collected. The follow-up period ended in March 2026. Paired-samples t test and Wilcoxon signed-rank test were used to compare indicators including height, weight, blood lipid levels, pulse wave velocity, and areal bone mineral density before and after treatment. Results: Among the 12 children, 6 were boys and 6 girls. The age at diagnosis was 0.8 (0.3, 4.8) years, including 10 cases of classic HGPS and 2 cases of non-classic HGPS. The follow-up duration was (7±2) months. Two patients were lost to follow-up. In the 10 children who completed follow-up, height increased significantly from baseline (93 (83, 102) vs. 97 (85, 103) cm, Z=2.81, P=0.002), while no significant change was observed in height-for-age Z-score (Z=0.46, P=0.682). Low-density lipoprotein decreased significantly (2.8 (2.3, 3.5)vs. 2.5 (2.1, 2.8) mmol/L, Z=2.13, P=0.031). No statistically significant change was found in weight, liver and renal function, homeostasis model assessment of insulin resistance, pulse wave velocity, carotid intima-media thickness and areal bone mineral density before and after treatment (all P>0.05). All children experienced gastrointestinal adverse reactions of varying degrees during treatment, which were predominantly mild to moderate and relieved after dose adjustment. One child discontinued treatment due to drug allergy. Conclusions: Lonafarnib demonstrated an overall favorable safety and tolerability profile. Early gastrointestinal adverse events were mostly reversible and manageable, with no significant drug-related hepatic or renal impairment observed. Short-term follow-up showed that only low-density lipoprotein improved significantly, with no clear evidence of growth benefit, and no progressive aggravation of vascular or skeletal lesions was detected.
Objective: Metagenomic sequencing was employed to analyze the pathogen detection profile in pediatric severe acute non-A-E hepatitis. Methods: Based on the platform of the China Childhood Severe Acute Hepatitis Collaborative Group, a case series study was conducted. This study enrolled 36 children with severe acute non-A-E hepatitis, who were admitted to 17 hospitals between April and July 2022. Clinical data, including etiological test results and liver function tests, were collected, and peripheral blood and nasopharyngeal swab specimens were obtained. Metagenomic next-generation sequencing (mNGS) was performed to detect potential infectious pathogens. Results: Among 36 children, there were 24 males and 12 females, with an onset age of 3.5 (1.1, 9.0) years. Common clinical symptoms were fever in 22 cases (61%), jaundice in 13 cases (36%), vomiting in 12 cases (33%), abdominal pain in 10 cases (28%), rash in 10 cases (28%), and diarrhea in 3 cases (8%). Serum alanine aminotransferase and aspartate aminotransferase levels were 950 (826, 1 404) and 811 (498, 1 295) U/L, respectively. Using PCR, plasma Epstein-Barr virus (EBV)-DNA was tested in 31 cases (86%) and plasma cytomegalovirus (CMV)-DNA in 25 cases (69%), and all results were below 5×105 copies/L. Plasma mNGS was performed on all 36 patients, detecting 11 viruses. These included EBV in 14 cases, CMV in 12 cases, human adenovirus in 2 cases, herpes simplex virus type 1 in 2 cases, adeno-associated virus type 2 (AAV2) in 1 case, and 6 other viruses. No patient tested positive for both human adenovirus and AAV2 simultaneously. Plasma mNGS results showed a viral read count of 4 (2, 10) per 1×108 reads. Nasopharyngeal swab mNGS was performed on 8 cases (22%), detecting 7 viruses. These included human herpesvirus 7 in 4 cases, EBV in 3 cases, and CMV in 3 cases, as well as 4 other viruses. Human adenovirus and AAV2 were not detected. Among the 4 children with human herpesvirus 7, 2 cases were also positive for human herpesvirus 6B, but neither virus was detected in their plasma mNGS. Conclusions: The detection rates of human adenovirus and AAV2 are both low among children with severe acute non-A-E hepatitis, and there are no cases of co-infection with both viruses.
近年来，随着单细胞组学、空间转录组学、多组学整合、人工智能及细胞治疗等技术的迅猛发展，儿童肾脏病学正经历从传统表型与病理分类向机制驱动的精准医学模式的深刻转型。国际上，在足细胞自身免疫机制、肾脏免疫微环境重塑、新型生物制剂、补体靶向治疗、嵌合抗原受体T细胞治疗及慢性肾脏病多通路保护等方面已取得突破性进展。本文围绕疾病机制解析、精准诊断、靶向治疗、细胞治疗及疾病管理等领域进行系统论述，展望儿童肾脏病精准医学体系的建设方向，为构建符合中国儿童特点的精准诊疗模式提供参考。
Objective: To evaluate the efficacy and safety of obinutuzumab (OBZ) in children with refractory nephrotic syndrome (RNS) who have a poor response to rituximab (RTX) therapy. Methods: This retrospective cohort study enrolled children with primary RNS who received OBZ because of poor response to RTX at the Children's Medical Center of Peking University First Hospital from July 2024 to December 2025. For each patient, outcomes during the OBZ treatment phase were compared with those during their preceding RTX treatment phase. Comparative parameters included duration of sustained B-cell depletion, duration of urinary protein remission, tapering of glucocorticoids and immunosuppressants, relapse frequency, and adverse events. Paired t-test, Wilcoxon signed-rank test, Mann-Whitney U test, χ2 test and Fisher's exact test were adopted for statistical analysis according to the data type and distribution characteristics. Results: Thirteen children (10 males, 3 females) were enrolled. The age at disease onset was (47±13) months, and the age at first OBZ administration was (121±35) months. There were 3 cases of steroid-resistant and 10 cases of steroid-sensitive but frequently relapsing nephrotic syndrome. Compared with the RTX phase, the OBZ phase was associated with significantly longer durations of sustained B-cell depletion, sustained urinary protein remission, and annual glucocorticoid and calcineurin inhibitor (CNI) withdrawal (all P<0.05). The annual relapse frequency was significantly lower during OBZ treatment than during RTX treatment (0 (0, 0.3) vs. 1.9 (1.4, 2.6), Z=3.06, P=0.002). Regarding safety, 2 children developed mild transient infusion reactions (gastrointestinal discomfort and elevated blood pressure), which resolved with reduced infusion rate; 1 child discontinued OBZ due to concurrent pneumonia and otitis media; and 7 developed asymptomatic hypogammaglobulinemia. No severe adverse events, such as severe neutropenia, thrombocytopenia or organ dysfunction, were documented. Conclusions: For children with RNS who experience short B-cell depletion duration and frequent relapse after RTX therapy, OBZ provides more durable B-cell depletion, effectively prolongs urinary protein remission, reduces relapse risk, and facilitates safer glucocorticoid tapering. These findings suggest that OBZ may serve as a viable alternative therapeutic option for this specific pediatric population.
Objective: To explore the co-occurring characteristics and associations with the related factors of internalizing and externalizing problems among preschool children aged 3-6 years in Yan'an. Methods: A cross-sectional survey was conducted from February 28th to March 5th, 2025, in 189 public kindergartens across 13 districts (counties) in Yan'an, Shaanxi Province. A total of 28 000 questionnaires were distributed. The survey collected information including children's age, sex, parental demographic characteristics, family economic status, and lifestyle factors. Children's behavioral problems were assessed using the parent-reported strengths and difficulties questionnaire (SDQ). Grouped by sex. Based on the presence of internalizing and externalizing problems, participants were classified into 3 groups: no problems group, internalizing-only or externalizing-only problems group, co-occurring internalizing and externalizing problems group. Pearson's chi-square test was used for groups comparisons. Multinomial Logistic regression models analysis was conducted. Results: A total of 16 159 valid questionnaires were included, comprising 8 301 boys and 7 858 girls, with the age of (4.8±0.9) years. Among them, 5 289 children (32.73%) had behavioral problems, including 3 598 (22.27%) with the single problem and 1 691 (10.47%) with co-occurring problems. Using the no-problem group as the reference category, after false discovery rate (FDR) correction, maternal age >40 years (OR=0.69, 95%CI 0.53-0.91, q=0.044), maternal education at the senior high school (college) level (OR=0.74, 95%CI 0.64-0.85, q<0.001) or bachelor's degree or above (OR=0.67, 95%CI 0.54-0.82, q=0.002), annual household income of ≥100 000 to <200 000 RMB (OR=0.66, 95%CI 0.55-0.78, q<0.001), and outdoor activity time ≥3 h per day (OR=0.76, 95%CI 0.68-0.84, q<0.001) were all negatively associated with co-occurring problems. Paternal unemployment was positively associated with co-occurring problems (OR=1.73, 95%CI 1.30-2.31, q=0.002). Maternal education at the senior high school (college) level (OR=0.87, 95%CI 0.78-0.96, q=0.046) and outdoor activity time ≥3 h per day (OR=0.88, 95%CI 0.81-0.95, q=0.006) were both negatively associated with the single problem, whereas screen exposure >1 h per day was positively associated with the single problem (OR=1.40, 95%CI 1.26-1.56, q<0.001). Conclusions: Co-occurring internalizing and externalizing problems are common among preschool children in Yan'an. Maternal age, maternal education level, paternal employment status, household income, and children's lifestyle factors are associated with co-occurring problems.
嗜酸粒细胞是免疫系统的重要组成部分，嗜酸粒细胞的生成、存活和功能主要受2型辅助性T淋巴细胞T（Th2型）免疫反应驱动。多种原发性免疫缺陷病（PID）免疫调节失衡，导致Th2型免疫应答偏向及其他免疫失调，引起病理性嗜酸粒细胞升高。现系统阐述嗜酸粒细胞增多与各类PID的关联机制以及特殊表现，为临床预警、诊断和治疗提供线索。
医学人文精神是医学的灵魂，在技术飞速发展的今天，其价值愈发凸显。本文以现代医学人文精神的核心内涵为起点，结合中国儿科肾脏病学专业的临床实践与学科发展，探讨医学人文传统如何在当代医疗环境中被传承与创新发展。提出在儿童肾脏病的诊疗中，医者应将“仁爱、共情、责任、尊重”融入医患沟通、伦理实践、人文服务创新中，承济世仁心，融医技仁术，实现技术与人性的有机融合，助力守护儿童肾脏健康。
患儿，女，12岁1月龄，主诉“面部潮红、颈部淋巴结肿大11 d”。结合患儿影像学检查、骨髓涂片细胞学检查、骨髓流式细胞学检查及淋巴结活检诊断T淋巴母细胞淋巴瘤。患儿持续肌酸激酶升高并出现近端肌无力，肌炎相关抗体、肌肉磁共振成像及肌电图检查支持幼年型皮肌炎诊断。患儿接受T淋巴母细胞淋巴瘤规范化学治疗，同时兼顾幼年型皮肌炎治疗，3个月后肌酸激酶恢复正常，肌力较前改善。幼年型皮肌炎合并恶性肿瘤比较罕见，对于伴持续肌酶升高及近端肌无力的淋巴瘤患儿，应警惕幼年型皮肌炎的可能。
Objective: To investigate the clinical features of regional portal hypertension (RPH) in children whose primary presentation was isolated gastric fundal varices. Methods: This case series study reviewed clinical data from 8 children diagnosed with RPH complicated with isolated gastric fundal varices at Beijing Children's Hospital, Capital Medical University from June 2017 to January 2026. Data on demographics, clinical manifestations, laboratory findings, diagnosis, and treatment were extracted and analyzed for etiology, clinical characteristics, and outcomes. Results: Among 8 children there were 6 males and 2 females, with a diagnostic age of 2.2-11.5 years. The underlying etiologies were pancreatic in 6 children (5 with severe pancreatitis complicated by pancreatic pseudocyst, and 1 with pancreatic involvement secondary to acute leukemia), all involving pancreatic body and tail. One child was of splenic origin (disseminated tuberculosis with splenic involvement), and 1 child was retroperitoneal (secondary to retroperitoneal neuroblastoma). Presenting features included abdominal pain (7 children), vomiting (6 children), and gastrointestinal bleeding (2 children, 1 of whom with isolated hematemesis, another 1 with hematemesis and melena). Splenomegaly occurred in 7 children. Ascites observed in 5 children, was attributed to the primary disease rather than to RPH. All 8 children had normal platelets, 3 children presented with leukopenia and anemia, which were attributed to the primary disease and secondary lesions. All 8 children had normal liver function, and coagulation function, but all demonstrated splenic vein abnormalities. All 8 children received treatment targeting at the underlying etiology. Somatostatin was administered to 5 children, and hemostatic agents to the 2 children with gastrointestinal bleeding. No child underwent endoscopic intervention. The follow-up ranged from 2 months to 8 years; 1 child with tuberculosis was lost to follow-up. The remaining 7 children showed symptomatic relief and improvement or complete resolution of gastric fundal varices. Conclusions: Regional portal hypertension often manifests as isolated gastric fundus varices and splenomegaly, and may be accompanied by gastrointestinal bleeding. Pancreatic, splenic, and retroperitoneal etiologies should be vigilanted. Individualized treatment strategies focused on the primary disease are crucial for improving pediatric RPH outcomes.
Objective: To evaluate the efficacy and safety of brentuximab vedotin (BV) combined with the IGE regimen (ifosfamide, gemcitabine) in the treatment of children's relapsed or refractory classic Hodgkin lymphoma (cHL). Methods: In this case series study, clinical data including age, sex, symptoms, pathological sub-type, clinical stage, previous clinical stage and treatment of the relapsed or refractory cHL children diagnosed and treated at Beijing Children's Hospital Affiliated to Capital Medical University from June 2022 to August 2025 were collected. All 23 children received 1 to 4 cycles of chemotherapy with BV plus the IGE regimen. Children were followed up until December 31st, 2025, and infusion reactions during treatment and adverse reactions after administration were recorded. Results: Among 23 children, there were 16 males and 7 females, the age was 14.8 (12.1, 16.7) years, and there were 3 children of refractory and 20 children of relapsed cHL. Pathological sub-types included 13 children of nodular sclerosis, 1 child of lymphocyte depletion, 7 children of mixed cellularity, and 2 children of lymphocyte-rich type. At initial diagnosis, 3 children presented with stage Ⅱ, 8 with stage Ⅲ, and 12 with stage Ⅳ. All 23 children received chemotherapy, among whom 14 had prior radiotherapy, 3 had programmed death 1 inhibitor treatment (1 of whom underwent autologous hematopoietic stem cell transplantation). At relapse or refractory disease, clinical stage was stage Ⅱ in 5 children, stage Ⅲ in 4 children, and stage Ⅳ in 14 children. A total of 84 cycles of BV combined with IGE regimen chemotherapy were administered. All children received involved-field radiotherapy after chemotherapy. Twenty-one children avoided hematopoietic stem cell transplantation, and 3 received single-agent BV maintenance therapy. All 22 evaluable children achieved a treatment response after 2 cycles of chemotherapy, and 14 (64%) achieved complete metabolic response (CMR). The follow-up time was 15 (9, 24) months; all 23 children achieved event-free survival, with an overall CMR rate of 91% (21/23). A total of 144 cases of grade 3 or above adverse events were recorded, predominantly myelosuppression, and none of which affected subsequent sequential treatment. Serum immunoglobulin levels (IgA, IgG, IgM) in children remained within the normal range before and after treatment. The pre-treatment total B-cell count was 166×10⁶ (38×10⁶, 259×10⁶)/L, which decreased to 17×10⁶ (5×10⁶, 21×10⁶)/L during treatment and recovered to 214×10⁶ (142×10⁶, 266×10⁶)/L at 3 months post-chemotherapy. Both natural killer cells and total T-cell counts were reduced at baseline, declined further during therapy, and returned to pre-treatment baseline levels at 6 months and 9 months after chemotherapy, respectively. Conclusion: BV combined with the IGE regimen has demonstrated marked efficacy and a favorable tolerable safety profile in the treatment of relapsed or refractory cHL in children while reducing the proportion of patients requiring hematopoietic stem cell transplantation.
1例14岁女童因“自幼夜间遗尿，伴大笑后不自主排尿9年”就诊。临床表现为患儿仅在大笑时或笑后出现大量尿失禁、非发作期日间排尿正常，相关检查未见明显异常，诊断为咯咯笑尿失禁共患原发性夜间遗尿症。采用醋酸去氨加压素片联合膀胱训练治疗夜间遗尿症，采用标准泌尿疗法、凯格尔训练及个体化情境控制咯咯笑尿失禁，随访5个月患儿夜间遗尿已完全消失，仍存在偶发大笑后尿失禁，发生频率及程度均较前明显减轻。
2例男性患儿，起病年龄分别为2岁4月龄和3岁，以腕关节肿痛起病，后出现腕骨溶解，曾疑诊为幼年特发性关节炎，治疗无效。基因检测分别发现V-Maf肌腱膜纤维肉瘤癌基因同源物Bc.188C>A（p.Pro63Gln）和c.206C>T（p.Ser69Leu）新发杂合变异，确诊多中心腕跗骨骨溶解综合征。予地舒单抗治疗后疼痛均缓解。
儿童克罗恩病是一种以透壁性炎症为核心特征的肠道疾病，基于其透壁受累易引发结构损伤的病理特征，单纯黏膜愈合不足以反映病情得到控制，实现肠壁全层修复的透壁愈合对改善患儿远期预后至关重要。随着影像学与生物标志物技术的进步，透壁愈合有望成为儿童克罗恩病的治疗新目标。现就透壁愈合的评估方法及临床意义相关研究进展进行综述。
RAS基因相关性自身免疫淋巴增殖性疾病（RALD）是由体细胞NRAS或KRAS基因变异驱动的免疫出生缺陷，以持续性单核细胞增多、脾大、淋巴结病变及免疫性血细胞减少为主要表现。其临床特征常与自身免疫性淋巴增殖综合征、系统性红斑狼疮等有重叠，尚无标准治疗方案。糖皮质激素、西罗莫司在部分患儿中有效，造血干细胞移植为难治或恶变者提供长期缓解可能。现系统综述RALD的临床特征、鉴别要点及治疗进展，为早期诊断和个体化治疗提供参考。
Objective: To analyze the clinical characteristics of lower urinary tract dysfunction (LUTD) in school-age children, examine their correlation with emotional-behavioral problems, and explore the potential influencing factors for such problems in this population. Methods: This case-control study enrolled 130 LUTD patients aged 6-12 years who were admitted to Shanxi Children's Hospital from June 2024 to October 2025, comprising the LUTD group. A control group of 125 age- and gender-matched children undergoing routine health check-ups at the hospital's outpatient department during the same period was also established. All participants were assessed by using a general information questionnaire, the dysfunctional voiding and incontinence scoring system (DVISS) and the Achenbach Child Behavior Checklist (CBCL) to evaluate lower urinary tract symptoms and emotional-behavioral problems. Independent sample t test, Mann Whitney U or χ2 test were used for comparison between groups. Multiple linear regression was applied to analyze the risk factors for emotional and behavioral problems in the LUTD group. Spearman rank correlation analysis was used to examine the correlation between emotional and behavioral problems and DVISS scores in the LUTD group. Results: The LUTD group consisted of 72 males and 58 females, with age of (8.5±1.7) years, while the control group included 66 males and 59 females, with age of (8.9±1.7) years. The scores of the total CBCL score, depression, hyperactivity, aggression, boy social problems and schizoid traits were all higher in the LUTD group than in the control group (t=4.78, Z=2.71, 4.76, 3.60, 2.17, 2.10, all P<0.05). Multiple linear regression analysis revealed that low educational level of caregivers, poor academic performance, family conflict and abnormal DVISS score were associated with emotional and behavioral problems in children with LUTD (β=4.99, 5.85, 2.87, 5.75, all P<0.05). In the LUTD group, DVISS scores were all positively correlated with the scores of social withdrawal, hyperactivity, aggression, social problems, obsessive-compulsive symptoms and the total CBCL score (r=0.24, 0.22, 0.21, 0.27, 0.29, 0.51, all P<0.05). Conclusions: School-aged children with LUTD are more likely to develop emotional-behavioral problems than healthy children. These problems are associated with the educational level of caregivers, severity of lower urinary tract symptoms, academic performance, and family relationships.
