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06 November 2025, Volume 40 Issue 11 Previous Issue   

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Standardized whole-process management of Peutz-Jeghers syndrome in children：a critical need FANG Ying, XIONG Shi-qiu 2025, 40(11): 881-885.  DOI: 10.19538/j.ek2025110601 Abstract ( )   Peutz-Jeghers syndrome（PJS）is an autosomal dominant disorder caused by pathogenic variants in the STK11 gene，characterized by mucocutaneous pigmentation，gastrointestinal hamartomatous polyps，and an increased susceptibility to cancer. In pediatric patients，complications due to gastrointestinal polyps are the primary factors that threaten the life and health of PJS children. Currently，many challenges remain in the clinical management of PJS，including delayed diagnosis，high rates of complications，and non-standardized management approaches.This review focuses on early detection of PJS in children，management strategy of polyps，tumor monitoring protocols，and key points in familial management，aiming to improve the long-term prognosis of PJS children by emphasizing the importance of standardized，whole-process management.

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Genetic diagnosis and genetic counseling for pediatric Peutz-Jeghers syndrome YANG Ying, CHE Feng-yu 2025, 40(11): 886-890.  DOI: 10.19538/j.ek2025110602 Abstract ( )   Pediatric Peutz-Jeghers syndrome（PJS）is a rare autosomal dominant genetic disease caused mainly by STK11 gene mutations.PJS is characterized by multiple gastrointestinal hamartomatoid polyps and mucosal hyperpigmentation，and is associated with a significant risk of neoplasia.In recent years，with the development of genomics，the genetic diagnosis technology of PJS is also progressing.Traditional Sanger sequencing，multiplex ligation-dependent probe amplification（MLPA），and emerging next-generation sequencing（NGS）have become routine methods，which provide new opportunities for early diagnosis.At the same time，genetic counseling plays an increasingly important role in genetic diagnosis，covering family analysis，risk assessment and fertility guidance， which helps families better understand disease risks and management strategies.This article aims to review the genetic diagnosis methods and genetic counseling of PJS，and systematically analyze the molecular mechanism，clinical manifestations and genetic counseling strategies of PJS based on the latest research progress，so as to provide theoretical basis and practical guidance for clinical diagnosis，treatment and family management.

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Application of capsule endoscopy in pediatric Peutz-Jeghers syndrome DUAN Jia-qi, ZHAO Hong-mei 2025, 40(11): 890-894.  DOI: 10.19538/j.ek2025110603 Abstract ( )   Peutz-Jeghers syndrome（PJS）is an autosomal dominant inherited disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps in the gastrointestinal tract，with an incidence ranging from 1/200，000 to 1/5，000.In childhood，the recurrent growth of PJS polyps often necessitates multiple endoscopic interventions，significantly affecting the growth and development of affected children.With the widespread use of diagnostic methods such as video capsule endoscopy（VCE），early detection and intervention of polyps have become achievable，which helps to reduce the risks of gastrointestinal bleeding and intussusception in children.This review aims to explore the role of VCE in polyp screening and follow-up in pediatric PJS through systematic summary，providing evidence-based support for optimizing the diagnostic and therapeutic pathways for this condition.

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Double-balloon enteroscopy for resection of small intestinal polyps in children with Peutz-Jeghers syndrome：methods and techniques REN Xiao-xia 2025, 40(11): 894-897.  DOI: 10.19538/j.ek2025110604 Abstract ( )   Peutz-Jeghers syndrome（PJS）is a rare autosomal dominant genetic disorder characterized by multiple gastrointestinal hamartomatous polyps.Symptoms can appear in childhood，and small intestinal polyps are likely to cause serious complications such as intussusception and bleeding. Double-balloon enteroscopy（DBE），as an important method for diagnosis and treatment of small intestinal diseases，provides the possibility for minimally invasive resection of small intestinal polyps in children with PJS. This article summarizes the characteristics of DBE diagnosis and treatment for small intestinal polyps in children with PJS，elaborates on the operative methods and key techniques（such as selection of insertion route，polyp localization，hemostasis strategies，etc.）of polyp resection under DBE，and analyzes surgical risks and countermeasures，aiming to provide practical reference for clinicians to improve the safety and effectiveness of diagnosis and treatment of small intestinal polyps in children with PJS.

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Management of postoperative complications after endoscopy for Peutz-Jeghers syndrome in children and selection of the timing of surgery YU Fei-hong, WU Jie 2025, 40(11): 897-900.  DOI: 10.19538/j.ek2025110605 Abstract ( )   Peutz-Jeghers syndrome（PJS）is an autosomal dominant syndrome characterized by the development of multiple hamartomatous polyps throughout the gastrointestinal tract，which can lead to complications such as intussusception and intestinal obstruction.With the application of endoscopic techniques in pediatrics，endoscopic polypectomy has become the primary treatment for PJS polyps.However，postoperative complications including gastrointestinal bleeding，perforation，and pancreatitis may occur.This article elucidates postoperative complications of endoscopic therapy in children with PJS and the selection of the timing of surgery，aiming to explore standardized diagnosis and treatment approaches to pediatric PJS.

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Ultrasonic diagnosis of common intestinal polyps in children SUN Yi, ZHANG Hao-rong 2025, 40(11): 901-904.  DOI: 10.19538/j.ek2025110606 Abstract ( )   Intestinal polyps are common digestive system diseases in children.Early and accurate diagnosis by ultrasound is of great significance to the treatment and prognosis of intestinal polyps in children.This paper introduces the definition and classification of intestinal polyps，and focuses on the application of ultrasound diagnosis technology in the diagnosis of intestinal polyps in children，including examination methods，image characteristics，etc.At the same time，based on the relevant guidelines，consensus and literature at home and abroad，it compares the advantages and limitations of ultrasound with other imaging diagnosis methods，and discusses the clinical value and future development direction of ultrasound diagnosis in children with intestinal polyps.

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Clinical characteristics of pediatric gastrointestinal polyps JIAO Xu-guo, WANG Li-bo 2025, 40(11): 905-908.  DOI: 10.19538/j.ek2025110607 Abstract ( )   Gastrointestinal polyps are a common condition in children，with abdominal pain and hematochezia being the most frequent symptoms.Due to the relatively narrow intestinal lumen in children，polyps tend to grow rapidly and can easily induce complications such as intussusception and intestinal obstruction. Particularly in children with polyposis syndromes，the number of polyps tends to increase with age，and some may even carry malignant potential in adulthood.Therefore，early diagnosis and treatment are essential upon detection，along with pathological examination， to determine the nature of the lesions.In recent years，the rapid advancement of endoscopic techniques has significantly improved the diagnosis and management of gastrointestinal polyps. This article systematically reviews the clinical characteristics of pediatric gastrointestinal polyps，aiming to enhance understanding of the disease，optimize diagnostic and therapeutic protocols，and ultimately reduce the incidence of severe complications while improving long-term prognosis in affected children.

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Evaluation of the efficacy and safety of rituximab combined with mycophenolate mofetil or tacrolimus in the treatment of pediatric steroid-dependent nephrotic syndrome：a single-center retrospective study CHEN Liu-tong, CHEN Han, CHEN Ya-li, et al 2025, 40(11): 909-917.  DOI: 10.19538/j.ek2025110608 Abstract ( )   Objective　To investigate the efficacy and safety of rituximab（RTX）combined with mycophenolate mofetil（MMF）or tacrolimus（TAC）in the treatment of pediatric steroid-dependent nephrotic syndrome（SDNS）. Methods　This retrospective cohort study enrolled 59 pediatric patients with steroid-dependent nephrotic syndrome（SDNS）who received their first rituximab（RTX）infusion at the Children’s Hospital of Chongqing Medical University between October 2016 and August 2023.Demographic characteristics，corticosteroid usage，and laboratory parameters were collected.Participants were categorized into two groups based on post-RTX immunosuppressant regimens：mycophenolate mofetil（MMF）or  tacrolimus（TAC）.Overlap weighting was applied to balance baseline characteristics.Weighted Kaplan-Meier analysis was used to compare relapse rates between the two groups，while weighted Cox regression models were employed to evaluate differences in corticosteroid use.Multivariable Cox regression analysis was used to identify the factors affecting disease relapse following initial RTX treatment. Results　The cohort comprised 59 patients（46 male，13 female）with a median age of 3.9 years（IQR 2.5，5.9）at disease onset and a median age of 10.5 years（IQR 7.6，12.6）at RTX initiation.Participants were divided into MMF group（n=23）and TAC（n=36）group.After overlap weighting，baseline characteristics were balanced.The MMF group demonstrated a significantly lower annualized relapse rate compared to the TAC group ［（0.175±0.582）vs.（0.672±1.186）episodes/year，P=0.033］ after the first RTX infusion.No statistically significant differences were observed between groups in relapse-free survival，corticosteroid dependency ，steroid dose at maintaining relief， minimal steroid dose ，minimal steroid maintenance duration，immunosuppressant tapering ，or incidence of adverse events（all P>0.05）. Multivariable Cox regression identified body weight as a risk factor for relapse after initial RTX therapy（HR=1.154，95% CI 1.051~1.266，P=0.003）in SDNS children. Conclusion In pediatric patients with steroid-dependent nephrotic syndrome（SDNS）receiving initial rituximab（RTX）therapy，maintenance treatment with mycophenolate mofetil（MMF）is associated with a significantly lower relapse rate compared to tacrolimus（TAC）.No statistically significant differences are observed between MMF and TAC in reducing corticosteroid dosage or safety profiles.

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Effects of dairy product intake on dietary quality and growth in Chinese preschool children：A multi-center observational real-world prospective cohort study LIAO Min, LIU Yun-man, FU Huan-huan, et al 2025, 40(11): 918-923.  DOI: 10.19538/j.ek2025110609 Abstract ( )   Objective　To investigate the effects of dairy product intake on dietary quality and growth in Chinese preschool children，aiming to provide evidence-based nutritional support for improving children’s dietary quality and promoting their growth. Methods　A real-world study，in which 1，179 preschool children were recruited，was conducted from August 2023 to October 2023 in Shanghai，Guangdong，Hubei，Sichuan，Liaoning，and Inner Mongolia. Participating families received daily cheese sticks（45 g per child）during a 6-month follow-up period. Dietary quality was assessed using the Chinese Healthy Eating Index（CHEI）. Results　Both baseline and followup data demonstrated significantly higher CHEI scores in the high dairy intake group compared to moderate and low intake groups，with this trend persisting after confounder adjustment（P<0.001）. At baseline，children in the high dairy intake group showed significantly higher height-for-age Z-scores（HAZ）than those in the low intake group（P=0.012）. After 6 months of intervention，in the high dairy intake group，HAZ gain was significantly greater in the high cheese intake group compared with the low intake group（P=0.006）. Multivariate linear regression analysis，controlling for confounding factors，revealed a linear relationship between cheese intake proportion and HAZ changes（P=0.005）. Additionally，the proportion of children choosing dairy products as snacks and the proportion of families focusing on nutritional components when purchasing dairy products both increased significantly（P<0.001），as did the  proportion of family members sharing cheese consumption with children（P<0.001）. Conclusion　In this study，preschoolers with adequate dairy intake may have better dietary quality. Increasing total dairy intake by enhancing cheese consumption exerts a positive effect on the overall dietary quality of preschoolers and may also benefit their growth.　Additionally，targeted nutritional education and provision of dairy products are effective in improving nutritional health awareness among families of preschoolers and promoting the adoption of healthy dairy-related dietary behaviors.

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Characteristic analysis of early joint lesions in children with hemophilia ZHENG Yun, XU Kai-shou, HE Li-ya, et al 2025, 40(11): 924-930.  DOI: 10.19538/j.ek2025110610 Abstract ( )   Objective　To learn about the characteristics of early joint lesions in children with hemophilia at different developmental stages after clotting factor replacement therapy. Methods　A total of 39 children with hemophilia at the age of 3 to 18 years who had received clotting factor replacement therapy for more than a year in Guangzhou Women and Children’s Medical Center from May 2020 to September 2022 were analyzed retrospectively. According to the activity level of coagulation factors，the severity of hemophilia was divided into mild（n=10），moderate（n=13）and severe（n=16）. All patients were divided into three groups according to age：infant group（3-6 years old，n=17），child group（7-12 years old，n=16），juvenile group（13-18 years old，n=6）. Ultrasound and hemophilia joint health score 2.1（HJHS 2.1）were applied to detect the health status of elbow，knee and ankle which had no joint bleeding in the one year before the experiment. Ultrasonic detection was used to obtain the maximum values of joint effusion and synovial thickness， and at the same time，investigate whether there was blood flow signal and cartilage loss in the joint or not. The positive rates（score≥1）of swelling，duration of swelling，muscle atrophy，crepitus on motion，flexion loss，extension loss，joint pain and muscle strength were obtained by HJHS 2.1. Chi-square test and rank-sum test were used to analyze the joint health of hemophilia children with different severity and age. Results　Knee had the highest positive rate in crepitus on motion（8% for elbow，59.74% for knee and 3.89% for ankle）in joints with different severity. The thickening of synovial membrane was most obvious in ankle ［elbow：1.50 （1.20，1.80）mm；knee：0 （0，1.20）mm；ankle：2.40 （1.80，3.05）mm］，and the difference was statistically significant（P<0.05）. Juvenile group had the most obvious synovial thickening in elbow，knee and ankle，elbow effusion，and crepitus on motion in knee，the differences being statistically significant（all P<0.05）. Ankle had the highest proportion of blood flow signal（12.99%）. The indicators of swelling，duration of swelling，muscle atrophy，extension loss and muscle strength were moderately or weakly correlated. Conclusion　The joints of children with hemophilia after clotting factor replacement therapy who have no joint bleeding have some impair manifestations in the joints such as crepitus on motion and synovial thickening ，with the joints in the lower extremities being the most obvious. Some joints may have small amount of bleeding. The joint lesions become more severe with age.

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Clinical characteristics and WISP3 gene analysis of 6 children with progressive pseudorheumatoid dysplasia DONG Qian, LIU Zi-qin, CHEN Xiao-bo, et al 2025, 40(11): 931-936.  DOI: 10.19538/j.ek2025110611 Abstract ( )   Objective　To summarize the clinical manifestations，imaging examination and WISP3 gene mutation of children with progressive pseudorheumatoid dysplasia（PPD），so as to improve the clinical understanding of the disease. Methods　The clinical data and genetic results of 6 children with PPD admitted to the Department of Endocrinology，Capital Center for Children's Health，Capital Medical University from December 2017 to April 2023 were retrospectively analyzed. Results　The 6 children with PPD were diagnosed at 5.4-12.8 years old，2 males and 4 females，and they visited the hospital for short stature，joint enlargement/pain，and abnormal walking posture. Four cases were with short stature and 2 cases were with slightly short stature. Blood calcium，blood phosphorus，alkaline phosphatase and 25 （OH）D levels and inflammatory indicators were normal in all children. Imaging examination showed that the vertebrae were flat and in irregular shape，and there were scoliosis and multiple swollen joints. All patients underwent whole exome sequencing（WES）. WISP3 gene mutation was detected in all patients，with homozygous mutation in 2 cases and complex heterozygous mutation in 4 cases.Among the 7 alleles，there were 3 missense mutations，2 frameshift mutation，1 shear mutation and 1 termination mutation，among which c.271delC（p.L91Sfs*14）was an unreported new mutation. Conclusion　The main clinical manifestations of PPD in children are short stature or slightly short stature，symmetric enlargement and pain of multiple joints. The results of genetic testing provide evidence for confirming diagnosis and genetic counseling for the family.The discovery of the new variant has enriched the spectrum of WISP3 gene variations.

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Anti-infective treatment for Staphylococcus aureus pneumonia in children FU Hong-min, LIU Kai, LUO Yong-liang 2025, 40(11): 937-940.  DOI: 10.19538/j.ek2025110612 Abstract ( )   Staphylococcus aureus（SA）pneumonia is a common disease with a relatively high fatality among children. In recent years，the detection rate of methicillin-resistant SA（MRSA）is increased，posing severe challenges to the antibiotic therapy in clinical practice. This article briefly described the clinical characteristics of SA pneumonia in children，the pathogenicity，the main drug-resistant mechanisms of SA，and the anti-SA drugs and their characteristics. The antimicrobial agents and strategy for methicillin-sensitive Staphylococcus aureus（MSSA）pneumonia，MRSA pneumonia，and vancomycin-mediated/-resistant SA（VISA/VRSA）pneumonia were recommended.Also，the future anti-infective therapy and research direction were prospected.

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Clinical characteristics and advances in the diagnosis and treatment of patent foramen ovale in children LI Xuan, LYU Hai-tao, TANG Yun-jia, et al 2025, 40(11): 941-946.  DOI: 10.19538/j.ek2025110613 Abstract ( )   Patent foramen ovale（PFO）is relatively common in children and is mostly asymptomatic. This review summarizes the pathophysiological characteristics of PFO，associated secondary diseases and symptoms，diagnostic methods，and treatment strategies. PFO results from the incomplete fusion of the septum primum and septum secundum after birth，leading to a  persistent abnormal communication between the right and left atria. PFO is associated with various diseases and symptoms，including paradoxical embolism，cryptogenic stroke，platypnea-orthodeoxia syndrome，migraine，and decompression sickness. Diagnostic methods primarily include transthoracic echocardiography，transesophageal echocardiography，transcranial Doppler ultrasound，and right heart contrast echocardiography. This review aims to provide a theoretical basis for clinical practice through a systematic overview of the pathophysiological characteristics，diagnosis，and treatment strategies of PFO.

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T cell exhaustion in the relapsed acute leukemia of children ZANG Yi-jun, FAN Yang, XU Gang 2025, 40(11): 947-951.  DOI: 10.19538/j.ek2025110614 Abstract ( )   By multiple means，the great progress has been made in the therapy of pediatric acute leukemia. But the relapse occurred after chemotherapy，allo-hematopoietic stem cell transplantation or Chimeric Antigen Receptor T-Cell Immunotherapy，which remained difficult to handle. The immune escape was revealed to play important role in the acute leukemia relapse. The leukemic cells evaded the immune surveillance and clearance to achieve the survival and proliferation leading to the relapse，especially in bone marrow microenvironment. T cell exhaustion was indicated to be critical in the immune escape. T cell exhaustion described a poor functional state，usually observed in chronic inflammation and tumor progress. We depicted here the research of T cell exhaustion in the relapsed acute leukemia of children，exploring the new strategy to handling the relapse by targeting it.

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A case of stiff person spectrum disorder in children with positive anti-glycine receptor （GlyR） antibodies combined with Sjogren’s syndrome and literature review TIAN Meng-na, LEI Mei-fang, YU Xiao-li, et al 2025, 40(11): 952-957.  DOI: 10.19538/j.ek2025110615 Abstract ( )   The clinical data of a child with stiff person spectrum disorder with positive anti-glycine receptor（GlyR）antibodies combined with Sjogren’s syndrome are retrospectively analyzed，and relevant literature is reviewed to analyze the clinical characteristics and the diagnostic and therapeutic experience. The patient is a 13-year-old boy，admitted to Tianjn Children’s Hospital on December 4，2024，with intermittent fever and episodic physical stiffness as the main clinical features. The anti-GlyR1 antibody in the cerebrospinal fluid was positive，and there were also symptoms such as dry eye. Taking the positive specific antibody and lip gland biopsy results into account，it was considered to be complicated with Sjogren’s syndrome. Both diseases have specificity and poor prognosis，but due to their rarity in clinical practice，they are prone to misdiagnosis and missed diagnosis， leading to adverse results in the children. Therefore，the combination between stiff person spectrum disorder with positive anti-GlyR antibody and Sjogren’s syndrome in children should be widely aware of and paid great attention to by clinicians in order to improve the prognosis of the children.

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Long-term follow-up and analysis of a child with pre-symptomatic spinal muscular atrophy treated with Nusinersen MA Kai, CUI Zhen-qiong, WANG Jie, et al 2025, 40(11): 958-963.  DOI: 10.19538/j.ek2025110616 Abstract ( )   5q Spinal muscular atrophy（SMA）is an autosomal recessive motor neuron disease，characterized clinically by symmetrical and progressive muscle atrophy and decreased muscle strength.Nusinersen is an antisense oligonucleotide that regulates the transcription of survival motor neuron gene 2（SMN2）by targeting specific nucleotide sequences to increase the production of full-length SMN protein and relieve symptoms in patients with 5q SMA.At present，the Chinese Mainland lacks long-term follow-up data of pre-symptomatic patients with 5q SMA treated with Nusinersen.In this article，we reported a patient admitted to Children’s Hospital Affiliated to Shandong University on February 19，2022 with 5q SMA who had 3 copies of SMN2 gene exon 7 treated with Nusinersen before symptom onset and had been followed up for more than 44 months.After treatment，the patient’s motor function developed normally and there was no neurogenic damage on electromyogram during follow-up， and the cerebrospinal fluid neurofilament light chain（Nfl）levels remained within the normal range； there was no adverse reaction.It is suggested that pre-symptomatic patients with 5q SMA can achieve normal motor development through long-term treatment with Nusinersen， which has good safety.

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A Case Report and Literature Review of Turnpenny-Fry Syndrome WU Zhi-hua, GONG Ke-bo 2025, 40(11): 964-968.  DOI: 10.19538/j.ek2025110617 Abstract ( )   Turnpenny-Fry syndrome（OMIM：618371）is a rare congenital developmental disorder caused by mutations in the PCGF2 gene，characterized by multisystem developmental impairments involving the nervous，skeletal，and immune systems.This article retrospectively analyzes a case admitted to Jinan Children’s Hospital in September 2023 of Turnpenny-Fry syndrome with a specific PCGF2 gene mutation（c.68G>A）.The patient exhibited multiple previously unreported clinical manifestations，demonstrating the phenotypic complexity of this disorder.This unique case expands the known clinical spectrum of the syndrome.Through in-depth analysis of the clinical characteristics and genetic diagnosis，this study enhances understanding of the pathogenesis and potential disease mechanisms of Turnpenny-Fry syndrome.The findings provide valuable scientific insights for future advances in gene therapy and precision medicine approaches for this condition.