Systemic lupus erythematosus (SLE) is one of the most common systemic autoimmune diseases in children. Thrombotic microangiopathy (TMA) is one of the serious complications of SLE. SLE patients with concurrent TMA often have a poor prognosis and a higher mortality rate. Eculizumab is a humanized monoclonal anti-C5 antibody, which is the preferred treatment for atypical hemolytic uremic syndrome (aHUS) in both adults and children. Currently, Eculizumab is used for the clinical treatment of pediatric SLE combined with TMA, and has achieved positive outcomes. This article reviews and summarizes current published studies on the application of eculizumab in treating pediatric SLE. From the perspective of pediatric nephrologists, it elaborates on some personal insights regarding the selection of indications, treatment timing, treatment course, and adverse reactions of eculizumab in the treatment of pediatric SLE. Some issues in the treatment of pediatric SLE with eculizumab still need to be further addressed by future multi-center, large-sample, and multi-level treatment regimen randomized controlled studies.

Central precocious puberty (CPP) significantly impacts children's growth potential and psychological well-being. Currently, the diagnosis of CPP primarily relies on the GnRH stimulation test, which is cumbersome and involves multiple blood draws, causing patient discomfort. In recent years, morning urinary gonadotropin measurement has gained attention due to its non-invasiveness and convenience. This article reviews recent advances in urinary gonadotropin testing for CPP diagnosis, analyzes its clinical feasibility, and discusses current challenges and future directions.

Objective To investigate the pathological distribution of pediatric renal diseases through renal biopsy analysis, thereby informing clinical diagnosis and treatment strategies. Methods The pathological data of children who underwent renal biopsy during the period from 2009 to 2022 were collected and analyzed to assess the pathological types and their characteristics. Results A total of 3 496 patients were included, with a male predominance. In infants and young children, primary glomerular diseases and hereditary kidney disorders were predominant, while secondary glomerular diseases increased significantly after school age. Primary glomerular diseases comprised 63.8% in total, with minimal change disease being the most common (42.7%), followed by IgA nephropathy (26.3%), mesangial proliferative glomerulonephritis (13.5%), and focal segmental glomerulosclerosis (7.3%). Secondary glomerular diseases accounted for 33.4%, with Henoch-Schönlein purpura nephritis (HSPN) representing 86.4% of these cases, and lupus nephritis accounting for 12.9%. Among the 60 cases of hereditary kidney diseases, Alport syndrome was the most common, accounting for 71.7%. Conclusion In the Zhejiang area, primary glomerular diseases predominate among children's kidney disorders, with minimal change disease being the most prevalent pathological type. Among secondary glomerular diseases, Henoch-Schönlein purpura nephritis is the most common. Congenital and hereditary factors should be closely monitored for infants and young children with kidney diseases.

Objective To summarize the application of the lactulose hydrogen-methane breath test (LHMBT) in children with gastrointestinal discomfort, and to analyze the clinical and endoscopic features of children with positive LHMBT. Methods A retrospective analysis was conducted on the clinical data of children hospitalized due to gastrointestinal discomfort in the Department of Gastroenterology of Shanghai Children's Hospital from August 2021 to October 2022. According to the LHMBT results, the children were classified into the LHMBT positive group and the LHMBT negative group, and the clinical characteristics of the two groups were compared. Among them, 63 children underwent gastrointestinal endoscopy, and their endoscopic and histopathological characteristics were analyzed. Results A total of 124 children with gastrointestinal discomfort were included, including 62 boys and 62 girls, with a median age of 10.0 (7.5-12.7) years. LHMBT was positive in 85 (68.5%) children. Among them, the positive rate of SIBO was 24.2% (30/124), the positive rate of IMO was 63.7% (79/124), and the co-positive rate of SIBO and IMO was 19.4% (24/124). The age distribution between the LHMBT positive and negative groups was statistically significant (P<0.05). The proportion of those aged 12-18 years in the LHMBT positive group was relatively low. Among the gastrointestinal discomfort symptoms of the children, abdominal pain was the most common (67.7%, 84/124), followed by abdominal distension (25.0%, 31/124) and constipation (18.5%, 23/124). Compared with the LHMBT-negative group, the proportion of children with diarrhea in the LHMBT-positive group was lower, and the difference was statistically significant (P<0.05). Among the 63 children who underwent gastrointestinal endoscopy, villous blunting and crypt loss in the terminal ileum were more frequently observed in the LHMBT positive group (n=47) than that in the LHMBT negative group (n=16), and the difference was statistically significant (P<0.05). Conclusions The positive rate of LHMBT in children with gastrointestinal discomfort is high, and the incidence of IMO is higher than that of SIBO. LHMBT positivity might correlates with villous blunting and crypt loss in the terminal ileum.

Objective To explore the predictive indexes for the efficacy of infliximab induction therapy in children with Crohn's disease. Methods The clinical data of children diagnosed with Crohn's disease and initially treated with infliximab in the Gastroenterology Department from January 1, 2018 to July 31, 2023 were retrospectively analyzed. The clinical features and laboratory tests before treatment were compared between children with mucosal healing and those without mucosal healing after 14 weeks of infliximab induction therapy. Results Fifty-three children with Crohn's disease (39 boys and 14 girls) were included, and the median age of diagnosis was 12.0 (11.0-13.0) years. The median duration from disease onset to the first infliximab treatment was 5.0(2.0-12.0) months. All the 53 patients had moderate to severe Crohn's disease, including 27 cases with anal fistula, 9 cases with anal fistula combined with intestinal stenosis, 8 cases with intestinal stenosis, 7 cases with extensive intestinal lesions, and 2 cases with growth retardation. Multivariate logistic regression analysis showed that simple endoscopic score for Crohn's disease (SES-CD), C-reactive protein (CRP) and procalcitonin (PCT) might be related to the outcome of mucosal non-healing under endoscopy after infliximab induction therapy (P<0.05). The area under the receiver operating characteristic (ROC) curve (AUC) of baseline SES-CD, CRP and PCT for predicting mucosal non-healing under endoscopy after infliximab induction therapy was 0.73, 0.77 and 0.77, respectively. The sensitivity, specificity and AUC of combined prediction of the three indicators were 0.96, 0.68 and 0.88, respectively. Conclusions The combination of SES-CD, CRP and PCT before infliximab treatment is more accurate in predicting the efficacy of infliximab induction therapy in children with Crohn's disease.

Objective To explore the classification methods, imaging examination methods, and treatment experiences of pediatric arterial ischemic stroke (PAIS). Methods Clinical data of PAIS patients admitted from January 2016 to July 2024 were collected. Their clinical manifestations, imaging examinations, treatments, and outcomes were retrospectively analyzed, and reclassified according to the COIST etiological classification. Results A total of 27 PAIS patients were enrolled, including 11 males and 16 females, aged from 5 months to 13 years. The etiologies identified were as follows: inflammatory (I) in 11 cases (40.7%), vascular structural abnormalities (S) in 4 cases (14.8%), other definite causes (traumatic infarction) (O) in 6 cases (22.2%), and undetermined causes in 6 cases (22.2%). Arteriopathy (T) and cardiac diseases (C) were not identified in this cohort. The most common symptoms were muscle weakness, dizziness, headache, and decreased consciousness. Imaging findings revealed that the middle cerebral artery (MCA) was the most frequently affected, occurring in 12 (44.4%) cases. Among the 27 patients, 15 (55.5%) received anticoagulant therapy, 14 (51.8%) underwent immunotherapy, and 2 (7.4%) underwent thrombolytic treatment. Conclusion The COIST etiological classification provides clear guidance and holds significant clinical value in etiological analysis and treatment direction. However, further optimization is needed to adapt to broader clinical applications.

Objective To investigate the clinical relationship between hypopituitarism and metabolic-associated fatty liver disease (MAFLD) in children with sellar region tumor after surgery. Methods From January 2017 to December 2023, patients with hypopituitarism resulting from sellar tumors were consistently monitored for over a year. All patients were categorized into either the MAFLD (+) group or the MAFLD (-) group based on liver ultrasonography. A comparison was then made between the clinical and biochemical parameters of the two groups. Results A total of 33 patients were included, with 16 patients (48.5%) in the MAFLD (+) group and 17 patients (51.5%) in the MAFLD (-) group. There were no significant differences in age or gender between the two groups. All patients had GHD (100%) and CH (100%). AI was present in 30 patients (91%), with equal distribution between the MAFLD (+) and (-) groups (50% each). CDI was diagnosed in 22 patients (66.7%), with more patients in the MAFLD (-) group (63.6%) compared to the MAFLD (+) group (36.4%). Hypernatremia hypodipsia occurred in 7 patients (21.2%), all belonging to the MAFLD (+) group. All CH patients were treated with oral levothyroxine sodium tablets, while 30 AI patients received oral hydrocortisone tablets. The height SDS and BMI were significantly higher in the MAFLD (+) group compared to the MAFLD (-) group (P<0.001). Fasting blood glucose, insulin, HOMA-IR, ALT, γ-GT, UA, PRL, and TG levels were significantly elevated in the MAFLD (+) group compared to the MAFLD (-) group, while HDL-C levels were significantly lower (P<0.05). No significant differences were observed in IGF-1 SDS, FT₃, FT₄, T₃, T₄, TSH, TBil, AST, Alb, TC, and LDL-C between the two groups. After treatment with recombinant human growth hormone (rhGH), there was a statistically significant decrease in TG and LDL-C levels among the patients. Conclusion After surgery for sellar region tumors, patients with hypopituitarism often experience a high incidence of MAFLD and hypothalamic dysfunction. This dysfunction can manifest as hypothalamic obesity, hypernatremia, and elevated prolactin levels, all of which increase the risk of developing MAFLD. Furthermore, treatment with rhGH may help improve metabolic markers among these patients.

Objective To report the clinic characteristic and genetic variant of a patient with childhood-onset Huntington disease (COHD), investigate the possibility of enhanced next-generation sequencing data to detect CAG repeat expansion and increase the outstanding of the disease through literature review. Method A COHD case was identified by exome sequencing combined with STR analysis (ES-STR), and the genetic and clinical date of the COHD patient were analyzed. Results The proband, a 16-year-old boy, presented with speech delay, hypokinesia and unsteady walking. ES analysis revealed 83 CAG repeats in Huntington gene (HTT) inherited from his father with 44 CAG repeats in HTT. In total, 15 articles and 20 patients related to COHD were included in literature review. Speech delay, dyskinesia, dystonia were major manifestations. The average onset was (4.23±2.33) years and the range of CAG repeat number of HTT gene was 51-312. ES demonstrated adequate coverage in the HTT locus and could identified cases with pathogenic expansion while large expansion needs additional validation to determine the precise repeat length. Conclusion The patient with COHD tended to have speech delay and movement disorder as the initial symptom instead of involuntary choreiform movements. ES-STR is an efficient diagnosis for Huntington disease (HD), particularly in COHD exhibiting non-classical phenotype. This article summarized the clinical features of COHD to improve the diagnosis for this rare disease and avoid undiagnosis and misdiagnosis.

Objective To enhance the understanding of the clinical characteristics of diquat poisoning in children. Methods A retrospective analysis was conducted on the clinical data of eight pediatric patients diagnosed with diquat poisoning at our hospital. "Diquat" and "diquat poisoning" were used as keywords to search in CNKI, Wanfang and PubMed database from inception to April 2024. Previous case reports were reviewed and summarized. Results Among the eight cases, there were two males and six females aged 3-14 years who ingested 1-180 g of poison. Six cases exhibited gastrointestinal symptoms, four cases showed varying degrees of lung injury, and two cases presented with severe neurological symptoms. The patients received gastric lavage, rehydration, and blood purification therapy. Ultimately, six patients survived, while two (25%) died. Additionally, sixteen cases from nine published papers were analyzed, revealing that nine cases developed different degrees of lung injury. All twelve cases reported in China survived, whereas four cases reported internationally and the two fatalities in this study exhibited earlier-onset severe neurological symptoms. Conclusion Lung injury caused by mild-to-moderate diquat poisoning in children is reversible, but severe diquat poisoning can progress rapidly and lead to multiple organ failure. Patients presenting with early severe neurological symptoms generally have a poor prognosis.

Objective To investigate the clinical characteristics and genetic variations of two children with isolation glycerol kinase deficiency (GKD), fthereby enhancing clinicians' understanding of this the disease. Methods Clinical and genetic data were collected from two pediatric patients with isolated GKD admitted between March 2018 and December 2023.Their clinical manifestations and genetic variation profiles were analyzed systematically. Results Both patients were male. Patient 1 aged 6 years and 7 months, exhibited paroxysmal nausea, vomiting, abdominal pain, anorexia, and lethargy. Laboratory findings revealed recurrent hypoglycemia, metabolic acidosis, elevated blood ketone bodies and triglycerides, as well as increased urinary ketone bodies and glycerol concentrations. Patient 2 aged 3 months,experienced asphyxia, seizures, coma, and feeding difficulties shortly after birth, leading to hospitalization for brain injury assessment. Elevated blood triglycerides and increased urinary glycerol concentrations were detected.. The whole exon gene detection showed that there was a hemizygous variation c.1145C>T (p.A382V) in Exon 15 of GK gene in patient 1, and a hemizygous variation c.422C>G (p.T141R) in Exon 6 of GK gene in patient 2. Sanger sequencing confirmed that both the c.1145C>T and c.422C>G variants were from phenotypically normal mothers and classified as variants of uncertain significance according to the ACMG guidelines, with no prior reports. Conclusion The acute-phase symptoms of isolated GKD lack specificity. Elevated blood triglycerides and urinary glycerol concentrations can aid in diagnosis, while definitive diagnosis relies on GK gene testing.

Childhood-onset thrombotic thrombocytopenic purpura (TTP) is very rare, and this article summarizes the clinical data of a child with immune-mediated TTP (iTTP) that occurred 4 years after diagnosis of systemic lupus erythematosus (SLE). The patient was initially diagnosed with SLE and lupus nephritis (Ⅳ+Ⅴ) at the age of 2 years after presenting with edema, hematuria, and albuminuria, and went into remission after treatment with glucocorticoids and tacrolimus, which was discontinued at 5 years old. And one year later, the child was admitted to the hospital with a sudden onset of cutaneous hemorrhagic spots, fatigue, and poor appetite. Laboratory examinations after admission were as follows. Urine protein was "++~+++", and urine red blood cell count was 78.1 per high-power field, with uniform red blood cell morphology. Hemoglobin was 85g/L, mean corpuscular volume of red blood cells was 80.5 fL, platelets were 7×10⁹/L, erythrocyte fragmentation were positive, lactate dehydrogenase was 998 U/L, creatinine was 34.2μmol/L, and indirect bilirubin was 23.1μmol/L. Anti-nuclear antibody in homogeneous type was >1:1000, anti-double-stranded DNA was >300 IU/mL, anti-U1 ribonucleic acid protein antibody was "++", anti-nucleosome antibody was "+", anti-ribosomal P protein antibody was "+", complement C3 was 0.15 g/L, and complement C4 was 0.05 g/L. The activity of plasma ADAMTS13 was 0.72%, and the plasma ADAMTS13 inhibitor was positive. The direct antiglobulin test was positive, the erythrocyte sedimentation rate was 44mm/h, and the PLASMIC score was 7 points. Combined with the history, clinical manifestations and laboratory findings, the child was definitively diagnosed with SLE associated iTTP. After two administrations with eculizumab combined with glucocorticoids, plasma infusion, immunoglobulin, and hydroxychloroquine sulfate, the child’s platelets quickly returned to normal, plasma ADAMTS13 activity rebounded to 12%, and plasma ADAMTS13 inhibitor turned negative. There are no domestic case reports of iTTP in children treated with eculizumab, and the results of our case suggests that complement inhibitors are effective in controlling iTTP disease activity.

Objective To summarize the clinical manifestations and gene detection results of a child with atypical erythrokeratodermia variabilis (EKV) caused by GJB3 gene variation, and provide reference for clinicians. Methods The clinical data of a child with EKV who was admitted to the Dermatology Department of our hospital were collected. The peripheral blood DNA of the child and his parents was collected, and the pathogenic variation was identified by second-generation targeted enrichment sequencing, and verified by Sanger sequencing. Results The patient, a 16-year-old boy, visited the hospital due to "generalized dryness, facial erythema and hyperkeratotic plaques on the trunk and limbs for 16 years". Physical examination revealed pruritic erythema on the face and generalized hyperkeratosis. Through next-generation targeted enrichment sequencing and Sanger sequencing, a heterozygous missense mutation of c.256T>A (p.C86S) in the GJB3 gene was identified in the patient. The mutation was not detected in the patient's parents. Based on the clinical manifestations and genetic testing results, the patient was ultimately diagnosed with EKV. Conclusions This study reports a case of EKV with special skin lesions caused by pathogenic variants in the GJB3 gene, which is helpful for improving the clinical cognition of dermatologists on this disease.

Narcolepsy is a rare neurological disorder characterized by excessive daytime sleepiness, cataplexy, disturbed night sleep, sleep paralysis and sleep hallucinations. It typically onsets during childhood or adolescence. The treatment is focused on ameliorating clinical symptoms, encompassing drug therapy to alleviate symptoms such as excessive daytime sleepiness and cataplexy. Despite the fact that orexin replacement therapy and orexin receptor agonists are in the research stage, the majority of drugs for narcolepsy used in children are off-label. Hence, more clinical studies are requisite to validate their safety and efficacy in children.