Loading...
Journal Information
Journal of Clinical Pediatrics
(Monthly, founded in 1983)
Governed by:Shanghai Jiao Tong University
Sponsored by:Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
   
Published by:Editorial Office of Journal of Clinical Pediatrics
Editor-in-Chief:SUN Kun
Address:1665 Kongjiang Road, Yangpu District, Shanghai.
Postal Code:200092
Phone:(021)25076489
E-mail: jcperke@126.com

Table of Content

    15 August 2026 Volume 44 Issue 8
      
    Expert Review
    Newborn screening and early intervention for X-linked adrenoleukodystrophy: significance, current status, and future perspectives
    YANG Xin, CHEN Chi, YANG Rulai
    Journal of Clinical Pediatrics. 2026, 44(8):  675-681.  doi:10.12372/jcp.2026.26e0502
    Abstract ( )   HTML ( )   PDF (1384KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    X-linked adrenoleukodystrophy (X-ALD) is a severe, progressive peroxisomal disorder inherited in an X-linked recessive pattern, characterized by high morbidity, neurologic deterioration, and premature mortality. Early identification and timely initiation of presymptomatic intervention are crucial for improving patient outcomes. Currently, newborn screening for X-ALD has been widely implemented internationally. In recent years, some provinces and cities in China have begun exploring the inclusion of X-ALD in routine newborn screening programs, leveraging advanced mass spectrometry platforms, but a standardized screening protocol has yet to be established. This article systematically reviews the clinical features of X-ALD, early intervention strategies, the value of newborn screening, and international and domestic practices and challenges. It highlights the necessity of X-ALD screening and identifies key issues requiring urgent resolution at this stage, aiming to provide scientific evidence and insights for developing and promoting standardized screening and early intervention protocols tailored to the Chinese population.

    Clinical Research
    A comparative study on the detection of anti-Nephrin antibodies in children's nephrotic syndrome by chemiluminescence method and cell-based assay
    LIN Jinfeng, CHEN Yi, DENG Yan, FENG Ai, HUANG Juan, CHEN Lizhu, XIE Jingqi, NIE Xiaojing
    Journal of Clinical Pediatrics. 2026, 44(8):  682-689.  doi:10.12372/jcp.2026.26e0171
    Abstract ( )   HTML ( )   PDF (1339KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective To compare the performance differences of the chemiluminescence (CL) method and the cell-based assay (CBA) method in detecting serum anti-Nephrin antibodies in children with nephrotic syndrome (NS). Methods A total of 34 children with nephrotic syndrome (NS) who visited the Pediatric Department from February 2023 to January 2025 were included, along with 18 healthy control children. Serum anti-Nephrin antibodies were detected by CL method and CBA method respectively. The children were grouped according to their urine protein levels and renal pathological types. The differences in positive rates between the groups were compared using the CL method and CBA method. The correlation and consistency between the CL method and CBA method were analyzed. The clinical characteristics of NS children with single positive by CL method and double positive by both CL method and CBA method were compared. Results Among the 34 children with NS, there were 26 boys and 8 girls. The average age was (11.7±3.9) years, and the median disease duration was 5.00 (2.75-9.00) years. There were 19 cases in the urine protein-negative group, 5 cases in the mild to moderate proteinuria group, and 10 cases in the heavy proteinuria group. There were 5 cases of focal segmental glomerulosclerosis (FSGS), 13 cases of minimal change disease (MCD), and 16 cases of minor glomerular abnormalities. The 18 healthy control children tested negative for serum anti-Nephrin antibodies using both the CL method and the CBA method. Among the 34 children with NS, the overall positive rate of CL method was 44.1% (15/34), which was higher than that by the CBA method (11.8%, 4/34), with a statistically significant difference (P=0.003). In NS patients stratified by urinary protein level (negative, mild-to-moderate, heavy), the positive rates of serum anti-Nephrin antibody were 10.5% (2/9), 80% (4/5), 90% (9/10) by CL method and 5.3% (1/19), 0 (0), 30% (3/10) by CBA method, respectively. Among the mild-to-moderate proteinuria and heavy proteinuria groups, the positive rate of the CL method was higher than that of the CBA method, and the difference was statistically significant (P<0.05). When comparing the results grouped by renal pathological types (FSGS, MCD, minor glomerular abnormalities), the positive rates of anti-Nephrin antibodies detected by the CL method were 80.00% (4/5), 46.2% (6/13), and 31.3% (5/16), respectively, while those by the CBA method were 60.00% (3/5), 0 (0), and 6.3% (1/16), respectively. Among them, the positive rate of the CL method in the MCD group was higher than that of the CBA method (P=0.015). Spearman rank correlation analysis showed that the serum anti-Nephrin antibody levels measured by the CL method and the CBA method were significantly positively correlated (rs=0.57, P<0.001). The consistency analysis of the two detection methods results revealed that the κ value was 0.63 (P<0.001), indicating good consistency. There were no significant differences in the clinical characteristics among NS children with single positive results by the CL method, double positive results by the CL method and the CBA method. Conclusions Both CL method and CBA method can be used to detect anti-Nephrin antibodies and the results are related. However, the CL method has higher sensitivity and can identify a wider range of antibody-positive children, and can be used as a preferred detection and monitoring tool for autoimmune podocyte injury in children with NS.

    Next-generation sequencing identified gene variants and their prognostic impact in pediatric Philadelphia chromosome positive acute lymphoblastic leukemia
    ZHENG Fangyuan, WANG Miao, DING Mingming, LU Aidong, JIA Yueping, ZENG Huimin, ZHANG Leping
    Journal of Clinical Pediatrics. 2026, 44(8):  690-697.  doi:10.12372/jcp.2026.25e1694
    Abstract ( )   HTML ( )   PDF (1584KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective To detect the concomitant gene variants other than the BCR::ABL1 fusion gene in pediatric patients diagnosed with Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) using next-generation sequencing (NGS) technology, and to explore the correlation between these variations and early treatment response as well as prognosis. Methods A retrospective analysis was performed on the clinical data and NGS detected hematological malignancy-related genetic variation results of pediatric patients with newly diagnosed Ph+ ALL from January 2020 to July 2025. Based on the status of IKZF1 gene deletion and the presence of CDKN2A/B or PAX5 deletions, the patients were divided into three groups: IKZF1plus group, isolated IKZF1 group, and IKZF1 negative group. Early treatment response was evaluated by the negative conversion rate of minimal residual disease (MRD) on day 33 of induction chemotherapy and the achievement rate of major molecular response (MMR). Prognosis was assessed by the rate of event-free survival (EFS), disease-free survival (DFS), cumulative incidence of relapse (CIR), and overall survival (OS). Results A total of 25 pediatric patients with Ph+ ALL who underwent NGS detection, including 18 males (72%) and 7 females (28%), with a median age of 9 (4-16) years at initial diagnosis. Concomitant genetic abnormalities were detected in 21 patients (84%), among which IKZF1 deletion was the most prevalent, occurring in 18 cases (72%). Among all enrolled children, the MRD negative conversion rate on day 33 of induction chemotherapy was 40%, and the MMR achievement rate was 44%. The median follow-up duration was 38 months (range: 2-82 months). The 3-year EFS rate was 43.5%, the 3-year DFS rate was 81.2%, the 3-year CIR was 26.5%, and the 3-year OS rate reached 100%.Patients were stratified into three groups according to concomitant genetic profiles: the IKZF1plus group (3 cases, 12%), the isolated IKZF1 deletion group (15 cases, 60%), and the non-IKZF1 abnormality group (7 cases, 28%). No statistically significant differences were observed in baseline clinical characteristics among the three groups (P>0.05). There were no significant intergroup differences in the bone marrow MRD negative conversion rate and MMR achievement rate on day 33 of induction chemotherapy (χ2=2.90, χ2=0.87, P>0.05). Similarly, no statistical differences were found in EFS, DFS and CIR across the three cohorts (χ2=0.07, χ2=3.19, χ2=2.77, P>0.05). Conclusion NGS can efficiently delineate the genetic variation spectrum of pediatric Ph+ ALL patients. IKZF1 deletion was the most common genetic abnormality. Neither IKZF1 nor IKZF1plus subtype has a significant impact on early molecular remission and long term survival within the limited sample size and followup duration.

    Analysis of the clinical and electrophysiological characteristics of atonic seizures in children
    ZHANG Xiao, FANG Hongjun, KUANG Xiaojun, WANG Lijuan, WU Zhao, JIANG Sha, LI Pei, WU Liwen
    Journal of Clinical Pediatrics. 2026, 44(8):  698-704.  doi:10.12372/jcp.2026.25e1347
    Abstract ( )   HTML ( )   PDF (1913KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective Atonic seizures occur without warning, and children with this condition may repeatedly fall, seriously affecting their safety and quality of life. Accurate diagnosis and management of atonic seizures are rather difficult, and the electroencephalography (EEG) and electromyography (EMG) features during the seizure period are the gold standard for differential diagnosis. This study summarizes the clinical, EEG, and EMG characteristics, treatment, and prognosis of children with epilepsy who have atonic seizures, with the aim of providing a reference for clinicians to correctly diagnose and treat this disease. Methods A retrospective analysis was conducted on the clinical data of children with atonic seizures admitted to the neurology department from August 2015 to December 2023. The clinical characteristics, etiology, treatment and follow-up of the children were analyzed and summarized. Results A total of 47 children had atonic seizures, including 32 boys and 15 girls. The median age of onset was 2.17 (1.17-2.92) years. Among them, 7 children had structural causes, 10 had hereditary causes, 1 had hereditary structural cause, and the causes were unknown in 29 children. The types of atonic seizures included generalized atonic seizures (33 cases), myoclonic-atonic seizures (5 cases), spasm-atonic seizures (2 cases), atypical absence seizures with atonic seizures (2 cases), both atonic seizures and myoclonic-atonic seizures (4 cases), and focal atonic seizures (1 case). The patients often have other types of seizures, with myoclonic seizures being the predominant type (15/47, 31.9%), followed by atypical absence seizures (6/47), and spasms (5/47), etc. Among the 47 children, the type of epileptic syndromes was clearly identified in 13 cases. Among them, 6 cases had epilepsy with myoclonic atonic seizures (EMAS), 5 had infantile epileptic spasms syndrome (IESS), 1 had Lennox-Gastaut syndrome (LGS), and 1 had Dravet syndrome (DS). Among the 47 patients, except for 5 patients with normal development, the remaining 42 all have some degree of intellectual disability. During atonic seizures, EEG manifestations included spike-slow waves in 20 cases, slow waves in 13 cases, multispike-slow waves in 8 cases, low-amplitude fast rhythms in 2 cases, slow waves composite fast waves in 2 cases, and slow waves followed by low-amplitude fast rhythms in 1 case. No EEG changes were observed in 1 case (electromyographic rest only). During seizures, EMG showed electromyographic suppression in 43 cases, while electromyographic suppression was inconspicuous in 4 cases. Among the 47 patients, 27 patients were controlled for at least 6 months without seizures, 14 patients had a 50% reduction in seizure frequency, and 6 patients were ineffective after anti-seizure medication. Conclusions Atonic seizures are more common in males than females and can be combined with multiple seizure forms, which are common in various epileptic syndromes. The etiology is mainly genetic and structural diseases, most of which are accompanied by intellectual disability. The main manifestations of ictal EEG are (multiple) spike slow waves, slow waves, low amplitude fast rhythms, slow wave composite fast waves, and slow waves followed closely by fast rhythms, and unchanged in EEG. Synchronous EMG monitoring is important for detecting atonic seizures.

    Case series analysis of 13 intestinal Behcet’s syndrome in children
    WANG Mengqian, YANG Hui
    Journal of Clinical Pediatrics. 2026, 44(8):  705-711.  doi:10.12372/jcp.2026.25e1377
    Abstract ( )   HTML ( )   PDF (1929KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective Pediatric intestinal Behcet’s syndrome (PIBS) is a rare but severe systemic vascular inflammatory disease characterized by diverse clinical manifestations and difficult early diagnosis. To investigate the clinical features, endoscopic and pathological outcomes, treatment and prognosis of PIBS. Methods Case series study was conducted. The clinical data of 13 children with PIBS diagnosed in the department of gastroenterology from December 2017 to December 2024 were retrospectively analyzed, and followed up until June 2025. Primary outcome measures clinical response rate, mucosal healing rate under endoscopic observation. Results There were 13 children with PIBS, 5 males and 8 females, with a median age of onset of 89.0 (50.0-96.0) months and a median diagnosis time of 10.0 (2.0-24.5) months; The clinical manifestations were abdominal pain (84.6%), diarrhea (30.8%), recurrent oral ulcers (92.3%), and fever (84.6%), with 1 case with intestinal obstruction, intestinal perforation and abdominal abscess, and 1 case with spleen abscess; Endoscopy showed multiple deep and large circular ulcers at the end of the ileum or ileocecal region. Pathological results showed only one case of vasculitis; the rest were chronic active nonspecific inflammation. In terms of treatment, 10 patients received only glucocorticoid combined with immunosuppressants at the beginning, of which 2 patients were treated with biologics in the later stage, and the other 3 patients received biologics initially. Conclusions PIBS lacks distinctive clinical features and has a high rate of complications; however, it exhibits certain characteristics on endoscopy and histopathology. Pediatricians should increase their awareness of this condition, as early diagnosis and standardized treatment can improve prognosis.

    Clinical characteristics and prognosis of pulmonary mucormycosis in children with diabetes mellitus
    WU Xirong, GAO Qi, GUO Siyuan, YIN Qingqin, QIN Qiang, YIN Ju, JIAO Anxia, CHEN Chenghao, WU Di, WANG Bei, DUAN Xiaomin, PENG Yun, XU Baoping, GAO Liwei
    Journal of Clinical Pediatrics. 2026, 44(8):  712-720.  doi:10.12372/jcp.2026.26e0804
    Abstract ( )   HTML ( )   PDF (1773KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective To investigate the key factors influencing the prognosis of pulmonary mucormycosis in children with diabetes mellitus, and to provide evidence for early identification of high-risk patients and optimization of diagnostic and therapeutic strategies. Methods A retrospective analysis was conducted on the clinical data of 8 children with diabetes mellitus complicated with pulmonary mucormycosis admitted to the Department of Respiratory from April 2021 to January 2026, including clinical manifestations, imaging features, etiological detection, treatment plans and prognosis. Results Eight patients, with a median age of 13.5 (12-16) years, were included in this study, of whom six (75%) were female. Five patients (62.5%) had type 1 diabetes mellitus, all complicated by severe diabetic ketoacidosis (DKA). All patients presented with fever and cough, and three (37.5%) experienced hemoptysis. Insulin therapy was initiated promptly following the diagnosis of diabetes, and glycemic control was subsequently achieved. The interval from diabetes diagnosis to initiation of antifungal therapy, with a median of 21 (3-60) days. All eight patients received combination antifungal therapy with liposomal amphotericin B plus either posaconazole or isavuconazole. One patient, in whom antifungal therapy was started within 14 days of diagnosis, achieved clinical cure. In the remaining seven patients, in whom antifungal therapy was initiated 14 days or more after diagnosis, two required lobectomy or pneumonectomy for hemoptysis, four improved with medical management alone, and one died. The seven surviving patients were followed up at regular intervals of 3 to 6 months after discharge, with the last follow-up visit conducted in June 2026. The median duration of follow-up was 9 (5-24) months. At the time of the last follow-up, chest computed tomography in all surviving patients demonstrated further resolution or stability of pulmonary lesions compared with findings at discharge, with no evidence of recurrence. Conclusions Diabetes mellitus complicated by severe DKA is an important warning sign for pulmonary mucormycosis in children. Early recognition and prompt initiation of antifungal therapy can significantly improve prognosis. For patients presenting with hemoptysis and obvious localized vascular involvement, active surgical debridement is beneficial in reducing mortality. A comprehensive management strategy incorporating rapid diagnosis and multidisciplinary collaboration should be established for this high-risk population.

    Brief Report
    A case report of branchio-oto-renal syndrome caused by EYA1 gene variant with a 6-year follow-up
    HAN Yanan, GE Lanlan, CUI Jieyuan
    Journal of Clinical Pediatrics. 2026, 44(8):  721-726.  doi:10.12372/jcp.2026.25e1641
    Abstract ( )   HTML ( )   PDF (1722KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Branchio-oto-renal syndrome (BORS) is a rare autosomal dominant disorder caused by mutations in the EYA1 gene, characterized by auricular malformations, branchial cleft anomalies, and renal lesions. Early identification and long-term management are critical for optimizing clinical outcomes. This study presents a 6-year diagnosis, treatment, and follow-up of a pediatric patient with BORS to enhance clinical understanding of the condition. Retrospective analysis was conducted on the patient’s clinical data, audiometric evaluations, imaging findings, genetic test results, therapeutic interventions, and follow-up records. The female patient was born with congenital auricular malformations and a cervical branchial fistula. Hearing loss was detected in infancy, progressing to end-stage renal disease (ESRD) during the preschool period. Genetic analysis identified a de novo heterozygous nonsense mutation c.986T>A (p.L329X) in the EYA1 gene, which was confirmed to be absent in both parents via Sanger sequencing. Laparoscopic peritoneal dialysis catheter placement was performed 2 years and 8 months after diagnosis, followed by initiation of continuous peritoneal dialysis. Over a follow-up period of 6 years and 2 months, the patient maintained stable renal function without secondary hypertension or severe dialysis-related complications, and overall quality of life was improved. For children with BORS, emphasis should be placed on early renal function monitoring, and timely initiation of renal replacement therapy can improve prognosis. Peritoneal dialysis is a safe and effective treatment option for children with BORS complicated by ESRD. The EYA1 gene mutation c.986T>A (p.L329X) reported in this study is a novel nonsense mutation, which enriches the mutational spectrum of BORS-causing genes.

    Phenotypic characteristics and prognostic analysis of a pedigree with childhood isolated nephrotic syndrome caused by compound heterozygous mutations in the COQ2 gene
    SHI Jiayi, GAO Chunlin, JIA Lili, LU Yunyun, SUN Tao, ZHU Xiaodong, XIA Zhengkun, ZHANG Pei
    Journal of Clinical Pediatrics. 2026, 44(8):  727-732.  doi:10.12372/jcp.2026.25e1728
    Abstract ( )   HTML ( )   PDF (2792KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    This study retrospectively analyzed clinical data from a family with childhood isolated nephrotic syndrome (INS) caused by compound heterozygous mutations in the COQ2 gene, to explore the correlations between genotype, clinical phenotypic characteristics, and prognosis. Two siblings in the family presented with INS, and renal pathological examination revealed focal segmental glomerulosclerosis (FSGS). Genetic testing identified that both siblings carried compound heterozygous mutations in COQ2: c.233T>G (NM_001358921.2), p.(Met78Arg) and c.823A>G (NM_001358921.2), p.(Thr275Ala), with c.233T>G being a de novo variant. The proband (elder brother) initially underwent genetic testing that failed to identify the etiology; treatment with glucocorticoids and immunosuppressants was ineffective, leading to progressive disease deterioration and eventual death. His younger sister, however, received an early diagnosis via reanalysis of the proband’s original sequencing data shortly after symptom onset. She was promptly administered high-dose coenzyme Q10 replacement therapy and had glucocorticoids gradually tapered and discontinued. After one year of treatment, her urinary protein levels decreased significantly, and clinical symptoms and laboratory indicators improved markedly, with a favorable prognosis. This study confirms the critical value of genetic testing and periodic reanalysis of sequencing data in the diagnosis and management of such inherited kidney diseases, as well as the efficacy of early clinical intervention in improving patient outcomes. It provides important references for the diagnosis, treatment, and genetic counseling of primary coenzyme Q10 deficiency-related nephropathy.

    Literature Review
    Pathogenesis, clinical features, and management of pediatric influenza-associated extrapulmonary syndrome: from ectopic infection to immune-mediated injury
    LIN Luona, LIU Juanjuan, WANG Hongyu, HU Bofei, XU Yi, HUANG Lisu
    Journal of Clinical Pediatrics. 2026, 44(8):  733-739.  doi:10.12372/jcp.2026.26e0338
    Abstract ( )   HTML ( )   PDF (1325KB) ( )  
    References | Related Articles | Metrics

    Although influenza has traditionally been considered a respiratory system-limited disease, severe influenza is often accompanied by multi-organ dysfunction. Extra-pulmonary influenza syndrome in children refers to systemic complications triggered by the influenza virus after it breaches the respiratory barrier, characterized by distinct pathological features. Based on pathogenesis, extrapulmonary influenza syndrome can be divided into two types: direct viral invasion (ectopic infection) and immune-mediated injury (represented primarily by acute necrotizing encephalopathy). The former involves epithelial barrier disruption, hematogenous dissemination, hemagglutinin-mediated tissue tropism, and host immune dysregulation; the latter is mainly driven by systemic inflammatory responses. Polymerase inhibitors show promise in reducing systemic viral load, and combination therapy with immunomodulation may improve clinical outcomes in high-risk pediatric patients. This review systematically summarizes the pathogenesis, clinical characteristics, and management strategies of extrapulmonary influenza syndrome in children, with a focus on distinguishing between the two pathological types—direct viral invasion and immune-mediated injury—to enhance early recognition and comprehensive management of this condition.

    Advances in the diagnosis and treatment of cystinuria
    JIA Shichen, XU Guofeng
    Journal of Clinical Pediatrics. 2026, 44(8):  740-746.  doi:10.12372/jcp.2026.25e1679
    Abstract ( )   HTML ( )   PDF (1290KB) ( )  
    References | Related Articles | Metrics

    Cystinuria is an autosomal recessive disorder caused by mutations in the SLC3A1 or SLC7A9 genes, leading to functional defects in the renal tubular b0,+ amino acid transporter, and is clinically characterized by early-onset and highly recurrent urolithiasis. Currently, clinical diagnosis primarily relies on urinalysis, stone analysis, imaging modalities, and genetic testing. First-line interventions include hyperhydration, urine alkalinization, and dietary restrictions, supplemented by thiol-based drugs as a second-line therapy to prevent stone formation. However, traditional interventions face significant limitations, such as poor pediatric adherence and pronounced adverse drug reactions. Consequently, recent therapeutic strategies for this disease have gradually shifted toward precision intervention. Novel pharmacological agents, such as L-cystine analog-based crystallization inhibitors and α-lipoic acid, have demonstrated promising therapeutic potential. Furthermore, targeted gene repair therapies utilizing adeno-associated virus 9 or piggyBac as delivery vectors have been preliminarily shown to effectively reduce stone burden in animal models. This review summarizes the pathogenesis and current clinical management of cystinuria, and objectively evaluates the prospects of novel therapies and genetic interventions, aiming to provide a theoretical reference for the optimized clinical management of this disease.

    Recent advances in the diagnosis and treatment of X-linked hypophosphatemic rickets
    CHENG Yuheng, XU Zizhao, CHEN Ying
    Journal of Clinical Pediatrics. 2026, 44(8):  747-754.  doi:10.12372/jcp.2026.25e1298
    Abstract ( )   HTML ( )   PDF (1268KB) ( )  
    References | Related Articles | Metrics

    X-linked hypophosphatemic rickets (XLH) is a skeletal mineralization disorder characterized by hypophosphatemia, caused by pathogenic variants in the PHEX gene that lead to elevated levels of fibroblast growth factor 23 (FGF23), which in turn inhibits renal phosphate reabsorption. In children, XLH primarily manifests as lower limb-predominant skeletal deformities, growth retardation, short stature, bone and joint pain, and dental abscesses.The traditional treatment regimen for XLH consists of neutral phosphate combined with calcitriol. In 2018, burosumab was approved for the treatment of patients with XLH. Burosumab targets and binds to FGF23 to inhibit its activity, increases renal phosphate reabsorption, reduces urinary phosphate excretion, promotes intestinal phosphate absorption, elevates serum phosphorus levels, and improves skeletal mineralization function. It has gradually become the first-line treatment for XLH. However, XLH is currently incurable, and existing treatment regimens struggle to maintain normal serum phosphorus levels. Even after treatment, patients generally still have a shorter final height. Additionally, due to various issues including its high cost, burosumab is rarely used in China, and clinicians have limited understanding of the advances in the diagnosis and treatment of XLH. Currently, several drugs targeting FGFR, α-Klotho, and other molecules, that aim to inhibit the effects of elevated FGF23 levels, are under development and are expected to provide new therapeutic options for XLH. This article reviews the cutting-edge advances in the diagnosis and treatment of XLH to help readers grasp the current status and future directions of this field.

    Research progress of pediatric intensive care unit-acquired weakness
    DING Qiuyuan, ZHOU Liang
    Journal of Clinical Pediatrics. 2026, 44(8):  755-762.  doi:10.12372/jcp.2026.26e0158
    Abstract ( )   HTML ( )   PDF (1300KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Intensive care unit-acquired weakness (ICU-AW) is a secondary neuromuscular syndrome occurring during critical illness, mainly manifesting as new-onset symmetrical limb weakness, muscle atrophy, and difficulty weaning from ventilation. This condition is well recognized in adult patients. However, there are few reports of ICU-AW in critically ill children, and awareness of the disease remains inadequate in the pediatric intensive care unit (PICU). Therefore, this article reviews the pediatric literature on ICU-AW and comprehensively summarizes the current academic understanding of pediatric ICU-AW in terms of epidemiology, risk factors, pathophysiology, diagnostic criteria and methods, and prevention and treatment. At this stage, research on pediatric ICU-AW is still insufficient with no unified diagnostic criteria, indicating that further clinical studies are required to deepen and unify the understanding of this disease. Reducing the risk factors for PICU-AW, as well as early mobilization, reduced sedation, and neuromuscular electrical stimulation therapy, may be effective measures for the prevention and treatment of PICU-AW.