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06 May 2025, Volume 40 Issue 5 Previous Issue   

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Expert consensus on prevention and treatment of hyperammonemia and metabolic crisis caused by organic acidemias Professional Committee on Pediatric Food-Medicines Homology & Metabolic Intervention, China Maternal and Child Health Association, The Branch of Birth Defects Prevention and Molecular Genetics, China Maternal and Child Health Association, Rare Diseases Society, Beijing Medical Association 2025, 40(5): 353-360.  DOI: 10.19538/j.ek2025050601 Abstract ( )   Organic acidemias，the common type of inherited metabolic disorders，are a group of serious and rare diseases. Among them，methylmalonic acidemia，propionic acidemia，and isovaleric acidemia are three classic organic acidemias. With the wide application of blood amino acids and acylcarnitines，urine organic acids and gene analysis，an increasing number of patients with organic acidemias have been diagnosed and treated. The accumulation of toxic organic acids in patients with organic acidemias can affect the urea cycle and tricarboxylic acid cycle，which may lead to hyperammonemia and metabolic disturbances in both acute and chronic phases，causing brain damage and multiple organ damage with high rates of disability and mortality. L-carnitine，carboglutamate， cobalamin and nutritional intervention are the key to treatment. In order to further standardize the diagnosis，treatment，and prevention of hyperammonemia and metabolic crises caused by organic acidemias，the experts in neonatology，critical care，endocrine metabolism，nutrition，neurology，rehabilitation，pharmacy and genetics have a discussion and formulate an expert consensus of diagnosis and treatment on the hot issues concerning screening，diagnosis，treatment，genetic counseling，and prenatal diagnosis based on domestic and foreign clinical evidence and practical experience.

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Thoughts and opinions on prevention and treatment of respiratory infectious diseases in children LIU Han-min, SHEN Kun-ling, HONG Jian-guo, et al 2025, 40(5): 361-366.  DOI: 10.19538/j.ek2025050602 Abstract ( )   The global outbreak of the COVID-19 pandemic in 2019 has brought new challenges to the prevention and treatment of pediatric respiratory infectious diseases. With the gradual lifting of non-pharmaceutical interventions，there has been a significant increase in pediatric respiratory infections，particularly infections caused by Mycoplasma pneumoniae，respiratory syncytial virus，influenza virus，parainfluenza virus，and adenovirus. The proportion of severe cases among children has risen，and the occurrence of co-infections has increased，profoundly affecting children's health and the socio-economy. This article assesses the current status of pediatric respiratory infections，analyzes the reasons for their high incidence，and proposes a series of considerations，which provides reference for the prevention and treatment of pediatric respiratory infectious diseases in the post-pandemic era.

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Characteristics and early lntervention strategies of childhood vitiligo GUAN Zhi-wei, LI Qin-feng 2025, 40(5): 367-371.  DOI: 10.19538/j.ek2025050603 Abstract ( )   白癜风；儿童；干预

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Epidemiological characteristics and pathogenic mecha-nisms of vitiligo in children and adolescents LIU Hai-fei, GAO Ying 2025, 40(5): 372-376.  DOI: 10.19538/j.ek2025050604 Abstract ( )   Epidemiological studies indicate that the preva-lence of vitiligo among children and adolescents ranges from 0. 04% to 2. 16%，who are aged primarily from 3 to 8 years old. The pathogenesis of vitiligo in children involves autoimmune responses，genetic susceptibility，and oxidative stress. Additionally，environmental factors such as sun exposure and contact with chemical substances，as well as deficiency in micronutrients，are closely associated with the onset of vitiligo. Overall，the pathogenesis of vitiligo in children and adolescents is complex，necessitating further research to develop effective treatment strategies tailored to this population，in order to address the differences in treatment responses from adults.

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Diagnosis and differential diagnosis of vitiligo in children WANG Ying, CHEN Li-xin, LI Qin-feng 2025, 40(5): 377-380.  DOI: 10.19538/j.ek2025050605 Abstract ( )   Childhood vitiligo is a common depigme-nted skin disease，whose typical characteristic isasymptomatic white patches with clear boundaries，and it can be generalized or limited. Clinically vitiligo is divided into nonsegmented，segmented，mixed and undefined types. Typical childhood vitiligo can be easily diagnosed，but it needs to be differen-tiated from other congenital and acquired hypopigmented disorders when its clinical manifestations are not typical in the early stage of disease.

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Progress of topical treatment for vitiligo in children LIN Yang-yang, LI Qin-feng 2025, 40(5): 381-385.  DOI: 10.19538/j.ek2025050606 Abstract ( )   Vitiligo is a common chronic autoimmune and depigmented skin disease. Its treatment methods include topical drugs，systemic therapy，phototherapy，surgical treatment and so on.In recent years，with more and more in-depth research on the pathogenesis of vitiligo，many new external drugs，such as Janus kinase inhibitors，phospodi-esterase-4 inhibitors，prostagland in F2α derivatives，and pseudocatalase/superoxide dismutase，have been gradually tried in the treatment of vitiligo，and have achieved good clinical efficacy. The objective of this article is to briefly review the progress of topical agents in the treatment of vitiligo in children.

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Systemic treatment of vitiligo in children SHU Hong, ZHOU Rui-xin, LI Yan 2025, 40(5): 385-389.  DOI: 10.19538/j.ek2025050607 Abstract ( )   With the development and marketing of new drugs globally，systemic drug therapy can be applied in all stages of vitiligo.However，for the special population of children，systemic drug use，especially the use of immunosuppressive drugs in the whole body，should be carefully weighed，and individualized treatment plans should be formulated.

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Ultraviolet phototherapy and combination therapy for childhood vitiligo YAO Lei, LI Shan-shan 2025, 40(5): 390-393.  DOI: 10.19538/j.ek2025050608 Abstract ( )   Ultraviolet（UV） phototherapy is a crucial treatment modality for vitiligo，encompassing narrowband UVB，308 nm excimer laser/light，and household UV phototherapy devices.While the UV photo therapy for pediatric vitiligo is similar to that for adults，the unique characteristics of children necessitate a thorough understanding and active cooperation of their parents. Additionally，treatment plans involving ultrav-iolet phototherapy and combination therapy should be tailored to meet the individual needs of each child.

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Surgical treatment of childhood vitiligo LI Jian, LI Yan-bo, WU Wen-yu 2025, 40(5): 394-397.  DOI: 10.19538/j.ek2025050609 Abstract ( )   Childhood vitiligo has its own characteristics in clinical and comorbidity aspects，and its treatment is similar to that for adults. Surgical treatment can be used as a treatment option for refractory vitiligo in stable stage children who have no response to other treatment，but the safety and efficacy of the surgical approach should be comprehensively evaluated. The commonly used surgical methods include micro skin graft transplantation，suction blister epidermal graft transplantation，cultured and noncultured cellular suspension transplantation，tissue engineering epidermal graft transplantation，etc. They can also be combined with micro-needling，laser，or other treatments.

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Diagnosis and treatment ideas for childhood vitiligo from the perspective of traditional Chinese medicine YANG Ming, LI Yuan-li, GAO Ying, et al 2025, 40(5): 397-400.  DOI: 10.19538/j.ek2025050610 Abstract ( )   Childhood vitiligo is caused by the synergistic effects of congenital deficiencies，diet disorders，emotional disorders，wind pathogens，trauma，and other internal and external factors that lead to the imbalance of qi and blood. The core pathogenesis is“deficiencycausing disease”，with the progression stage being characterized by deficiencyin origin and excess in superficiality and the stable stage being dominated by deficiency. In clinical practice，the eight principles of syndrome differentiation are used as the guideline，together with the methods of differentiation of organs，wind pathogens，and qi and blood；based on the characteristics of the disease onset and the physiological and pathological characteristics of children，comprehensive individualized internal and external treatment is carried out，and at the same time，attention is paid to daily care in order to improve efficacy and prevent recurrence.

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Analysis of risk factors for death in surgical treatment for neonatal necrotizing enterocolitis QIAN Li-dan, SUN Wen-qiang, JIN Xin-yun, et al 2025, 40(5): 401-406.  DOI: 10.19538/j.ek20250506011 Abstract ( )   Objective    To retrospectively analyze the clinical data and recent outcomes of neonates with necrotizing enterocolitis（NEC）undergoing surgical treatment，and to explore the high-risk factors for mortality in NEC patients，in order to achieve early intervention and improve their prognosis. Methods    Neonates diagnosed with NEC and undergoing surgical treatment at the Neonatology Department of the Children's Hospital of Soochow University from January 1，2014 to December 31，2022 were selected as the study subjects.They were divided into a survival group and a death group according to their hospitalization outcomes.The data concerning general information，underlying diseases and complications，auxiliary examinations on the day of onset，and treatment during hospitalization were collected from the two groups. By comparing the above data，the high-risk factors for death of neonates receiving NEC surgery were analyzed. Results    A total of 104 newborns who underwent NEC surgery were included，including 56 males and 48 females.Among them，80 survived（76.92%）and 24 died（23.08%）. The death group was significantly lower than the survival group in terms of gestational age，birth weight，corrected gestational age at onset，and prognostic nutritional index（PNI）（P<0.05）. The time from onset of disease to operation was significantly longer in the death group than in the survival group（P<0.05）. The incidence of sepsis，shock，abdominal distension，peritonitis，white blood cell count<4×109/L，platelet count<50×109/L，pH<7.35，multiple perforation，and simultaneous necrosis of the ileocolon in the death group was significantly higher than that in the survival group （P<0.05）. The death group had significantly higher levels of C-reactive protein（CRP）/albumin（ALB）ratio（CAR），neutrophil to lymphocyte ratio（NLR），lactate，and Duke abdominal X-ray score（DAAS）compared to the survival group，the difference being of statistical significance（P<0.05）. Multiple Logistic regression analysis showed that platelet count<50×109/L，elevated CAR，multiple perforation，and simultaneous necrosis of the ileocolon are risk factors for neonatal mortality in NEC surgery. Conclusion    A platelet count<50×109/L，elevated CAR，multiple perforation，and simultaneous necrosis of the ileocolon are risk factors for neonatal mortality in NEC surgery.

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A nomogram for predicting GFR decline in children with Henoch-Schönlein purpura nephritis LI Yan, YUAN Ting-ting, ZHOU Su-qin, et al 2025, 40(5): 407-412.  DOI: 10.19538/j.ek2025050612 Abstract ( )   Objective    To investigate the risk factors for renal damage in children with Henoch-Schönlein purpura（HSP），and to develop a nomogram for predicting decreased glomerular filtration rate（GFR）in children with Henoch-Schonlein purpura nephritis（HSPN）. Methods    116 children with HSPN confirmed by renal biopsy from July 2021 to June 2024 were enrolled.The demographic characteristics，clinical and renal pathological characteristics of children with HSPN were utilized to develop a nomogram model for predicting the progression of HSPN. Ten-fold cross-validation was used to select the optimal harmonic coefficient λ in the model.The discrimination and accuracy of the prediction model were evaluated based on the receiver operating characteristic curve（ROC）and calibration curve，respectively，and a nomogram was drawn. Results    The results showed that serum creatinine and renal pathology were independent risk factors affecting the progression of HSPN （P<0.05）. Two variables affecting the prognosis of children with HSPN were selected through the LASSO regression method，and a nomogram was built based on these variables. The predictive model yielded an AUC of 0.957（95%CI 0.925-0.990），The calibration curve showed that the risk factors for HSPN progression predicted by the nomogram were in good agreement with the actual results.The decision curve analysis showed that the nomogram model could obtain clinical benefits within a large threshold range（0-90%）. It has good practicability. Conclusion    In this study，Based on the two independent risk factors of serum creatinine and renal pathology，a nomogram model was established for the first time in predicting the risk of decreased GFR in children with HSPN，which has great value in predicting the decreased renal function in children with HSPN.

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Correlation between p38MAPK level and Th1 and Th2 cytokines in RSV infection PENG Li, ZHONG Li-li, LI Fang-cai, et al 2025, 40(5): 413-417.  DOI: 10.19538/j.ek2025050613 Abstract ( )   Objective    To investigate the clinical features of hospitalized children with respiratory syncytial virus（RSV）and the correlation between the expression of p38MAPK and type I helper T cell（Th1）and type Ⅱ helper T cell（Th2）cytokines. Methods    A total of 154 children with RSV infection who were hospitalized in Hunan Provincial People's Hospital from January1，2023 to June 30，2023 and underwent nasopharyngeal swab examination were selected as RSV group. According to the family history of eczema，urticaria，allergic rhinitis and related allergic diseases，the 154 children with RSV infection were further divided into atopic group（74 cases）and non-atopic group（80 cases）.Extract and organize the general data and the laboratory examination reports of the children included. In the cell experiment there were divided into control group，RSV group，and RSV+SB202190（p38MAPK inhibitor）group. Real time fluorescence quantitative PCR was used to detect p38MAPK mRNA levels，and ELISA was used to detect partial cytokine expression. Results    Compared to the control group，the RSV group showed a significant increase in P38MAPK mRNA levels and secretion of IL-4，IL-5，and IFN-γ（P<0.05）. Compared with the RSV group，the expression of P38MAPK mRNA and the secretion of IL-4，IL-5，and IFN-γ were significantly reduced in the RSV+SB202190 group（P<0.05）. Compared with the non-atopic group，the atopic group had significant increases in eosinophil（EOS）count，immunoglobulin A（IgA），interleukin-4（IL-4），IL-4/IFN-γ，p38MAPK and IgE（P<0.05）. The atopic group had a significantly lower level of IFN-γ than the non-atopic group（P<0.05）. Further correlation analysis showed that p38MAPK was positively correlated with IL-4 and IL-4/IFN-γ（rs=0.58，0.68，P<0.05）. Conclusion    The p38MAPK may be involved in the development of RSV respiratory tract infection by regulating the levels of Th1 and Th2 cytokines.

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Update on the pathogenesis of IgA vasculitis in children JIN Yan-yan, LIN Qian, HE Xue, et al 2025, 40(5): 418-424.  DOI: 10.19538/j.ek2025050614 Abstract ( )   IgA vasculitis（IgAV），is one of the most common forms of small blood vessel inflammation in children. While the precise pathogenesis of IgAV remains to be fully understood，it is widely accepted that the condition involves a complex interaction of genetics，immune system，and environmental factors.Typically，IgAV resolves on its own；however，in some cases，it can progress to nephritis or even end-stage renal disease.Researches indicate that there are significant variations in the incidence of IgAV across different populations，with genetic predisposition playing a crucial role in the development of the disease.Furthermore，studies suggest that the formation and deposition of galactose-deficient（Gd-）IgA1 immune complexes may be the primary cause of tissue damage，although the exact mechanism is still a matter of controversy.T cell dysfunction has a significant effect on the pathogenesis of IgAV.In this review，we will study the roles of genetic factors，immune dysfunction，infections，and endothelial cell injury in the pathogenesis of IgA vasculitis.

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Research progress on the etiology of Kawasaki disease GU Xin-yu, GONG Fang-qi 2025, 40(5): 425-432.  DOI: 10.19538/j.ek2025050615 Abstract ( )   Kawasaki disease（KD）is a systemic vasculitis that is more common in children under 5 years old. It can cause coronary artery lesions， and is the main cause of acquired heart disease in children. Early high-dose intravenous immunoglobulin（IVIG）combined with aspirin is currently the first-line treatment.Although Kawasaki disease has a history of more than 50 years since it was first reported and the incidence has been rising years after years，its specific etiology and pathogenesis still remain unclear，which is widely concerned by pediatricians in clinical practice.In order to understand KD better and provide ideas for its further diagnosis and treatment，this article discusses the current research status of KD etiology from the perspectives of infection，genetics and immunity.

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A novel mutation in the CUL7 gene causing 3-M syndrome：a case report PENG Hang-hang, SUN Wen-qiang, ZHU Xue-ping 2025, 40(5): 433-436.  DOI: 10.19538/j.ek2025050616 Abstract ( )   This study retrospectively analyzed the clinical data，follow-up records，and genetic findings of a child with 3-M syndrome， who was admitted to the Children's Hospital of Soochow University in July 2021 for growth retardation for nearly 8 years. Genetic testing revealed compound heterozygous mutations in the CUL7 gene：a previously reported splice-site variant c. 3355+5G>A（maternally inherited）and a novel nonsense mutation c. 4582C>T（paternally inherited）. According to ACMG guidelines，c. 4582C>T was classified as pathogenic（PVS1+PM2+PM3）and represented the first case reported globally. After one year of recombinant human growth hormone（rhGH）therapy，the patient's height increased by 6. 6 cm，but catch-up growth remained limited. This case expands the mutational spectrum of the CUL7 gene and provides novel evidence for genotype-phenotype correlation of 3-M syndrome.

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Chronic recurrent multifocal osteomyelitis in an adolescent：a case report GUO Wang-rong, ZHANG Xiu-ying, DONG Han-yu, et al 2025, 40(5): 437-440.  DOI: 10.19538/j.ek2025050617 Abstract ( )   Chronic recurrent multifocal osteomyelitis is a rare clinical disease with insufficient clinical recognition.It is often misdiagnosed as infectious osteomyelitis，bone tumors，or childhood growing pain，etc，whichdelays treatment and affectsatient prognosis.Currently，there are few reports of this disease in China. A case of juvenile CRMO who was misdiagnosed for more than 7 years in the rheumatology and Immunology Department of Zibo Central Hospital was retrospectively reported in this paper，and the literature was analyzed to improve the understanding of the disease among clinicians.