中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260403-00267

Y J Fu, Y X Qiao, S Y Qian, Q Wang, L J Wang

引用次数: 0

[Summary of the 17th Academic Conference on Pediatric Gastrointestinal Diseases]. [第十七届儿科胃肠病学术会议纪要]。

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260720-00569

D X Guan, J Wu

引用次数: 0

[Expert consensus on nutritional assessment and support for pediatric extracorporeal membrane oxygenation patients (2026)]. [儿童体外膜氧合患者营养评估与支持专家共识[2026]。

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260601-00425

引用次数: 0

[Clinical and genetic characteristics of 6 children with acrodysostosis]. [6例肢端畸形患儿的临床及遗传特点]。

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260530-00421

X O Wang, T Zhang, C X Gong, X Fan, B Y Cao

{"title":"[Clinical and genetic characteristics of 6 children with acrodysostosis].","authors":"X O Wang, T Zhang, C X Gong, X Fan, B Y Cao","doi":"10.3760/cma.j.cn112140-20260530-00421","DOIUrl":"10.3760/cma.j.cn112140-20260530-00421","url":null,"abstract":"Objective: To analyze the clinical, radiographic, and genetic characteristics of children with acrodysostosis (ACRDYS). Methods: This case series study enrolled 6 children with ACRDYS from Capital Center for Children's Hospital of Capital Institute of Pediatrics, Beijing Children's Hospital Affiliated of Capital Medical University, and the Second Affiliated Hospital of Guangxi Medical University. Diagnosis was confirmed by whole-exome sequencing between July 2023 and April 2026. Clinical data, laboratory findings, radiographic features, treatment details, and genetic test results were reviewed. Results: Among the 6 ACRDYS children, 5 had PRKAR1A gene variation (ACRDYS1) and 1 had PDE4D gene variation (ACRDYS2). There were 3 boys and 3 girls. The age at diagnosis was 6.3 (5.3,9.1) years. Four children presented with short stature and 2 with short hands and feet. One child was born preterm, 1 was small for gestational age, and 1 had a positive family history. All 6 children had brachydactyly and characteristic facial features, including depressed nasal bridge, upturned nasal tip, long philtrum, and micrognathia. Two children were obese. The 4 children with ACRDYS1 had parathyroid hormone resistance and 3 had thyroid-stimulating hormone (TSH) resistance (1 child was not tested for TSH). The child with ACRDYS2 had mild intellectual developmental delay and no hormone resistance. Hand radiographs showed shortened metacarpals and phalanges with cone-shaped epiphyses in all patients. Bone age was advanced in 3 children and delayed in 1. Genetic testing showed PRKAR1A variants in 5 children and a PDE4D variant in 1 child. The PRKAR1A nonsense variant p.Arg368* was the most common, detected in 3 of the 5 children. One PDE4D variant was previously unreported. Conclusions: Children with ACRDYS typically present with brachydactyly or brachytelephalangy, midfacial hypoplasia, and hand radiographic abnormalities. ACRDYS1 is often accompanied by mild hormone resistance, while ACRDYS2 features neurodevelopmental delay without obvious endocrine abnormalities.","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"64 10","pages":"1185-1189"},"PeriodicalIF":0.0,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148972534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Progress in the diagnosis and treatment of sleep-disordered breathing in children with neuromuscular disease]. [神经肌肉疾病儿童睡眠呼吸障碍的诊断和治疗进展]。

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260316-00213

X Y Zhao, H Xiong, Z F Xu

引用次数: 0

[Etiological and clinical classification of pulmonary hypertension in children]. [儿童肺动脉高压病因及临床分型]。

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260402-00264

R X He, H M Yang, J R Liu, X L Tang, H Xu, H Liu, Y L Shen, X Y Zhang, H M Li, S Y Zhao

{"title":"[Etiological and clinical classification of pulmonary hypertension in children].","authors":"R X He, H M Yang, J R Liu, X L Tang, H Xu, H Liu, Y L Shen, X Y Zhang, H M Li, S Y Zhao","doi":"10.3760/cma.j.cn112140-20260402-00264","DOIUrl":"10.3760/cma.j.cn112140-20260402-00264","url":null,"abstract":"Objective: To investigate the etiological and across clinical classification features in children with pulmonary hypertension (PH). Methods: Case series study. This case series included 269 children with PH who were admitted to Department No. 2 of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, from January 2017 to December 2024. Demographic characteristics, clinical manifestations, and etiological evaluation results were collected. According to the etiology, PH was classified into pulmonary arterial hypertension (PAH), PH associated with left heart disease, PH associated with lung diseases and (or) hypoxia, chronic thromboembolic pulmonary hypertension (CTEPH), and PH with unclear and (or) multifactorial mechanisms, and others. Results: Among 269 patients with PH, 153 were boys and 116 were girls. The age of onset was 8.0 (3.2, 28.0) months, and 151 patients (56.1%) developed PH before one year of age. The cohort included 157 patients (58.4%) with PAH, 5 patients (1.9%) with PH associated with left heart disease, 63 patients (23.4%) with PH associated with lung diseases and (or) hypoxia, and 21 patients (7.8%) with PH of unclear and (or) multifactorial mechanisms. No cases of CTEPH were identified. The remaining 23 patients (8.6%) required supplementary etiological annotation, including immune-inflammatory-related PH in 9 patients (3.3%) and PH associated with genetic syndromes or chromosomal abnormalities in 14 patients (5.2%). Among 43 patients with heritable or idiopathic PAH, pathogenic or likely pathogenic genetic variants were identified in 27 patients (62.8%), involving 12 PAH-associated genes. Variants in BMPR2 gene and TBX4 gene were identified in 6 and 5 patients, respectively. Twenty-one patients (7.8%) had overlapping etiologies involving 2 or more potential contributing mechanisms. Conclusions: PAH and PH associated with lung diseases and (or) hypoxia represented the major etiological categories. Some patients had underlying genetic factors, immune-inflammatory conditions, genetic syndromes, or chromosomal abnormalities, and overlapping etiologies were observed.","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"64 10","pages":"1168-1172"},"PeriodicalIF":0.0,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148972537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Clinical analysis of spinal muscular atrophy complicated with hypoglycemia in 5 children]. 小儿脊髓性肌萎缩症合并低血糖5例临床分析

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260226-00159

S Li, Y Wu, Y B Fan, D L Li, H Xiong, C J Wei

{"title":"[Clinical analysis of spinal muscular atrophy complicated with hypoglycemia in 5 children].","authors":"S Li, Y Wu, Y B Fan, D L Li, H Xiong, C J Wei","doi":"10.3760/cma.j.cn112140-20260226-00159","DOIUrl":"10.3760/cma.j.cn112140-20260226-00159","url":null,"abstract":"Objective: To summarize the clinical characteristics and management of hypoglycemia in children with spinal muscular atrophy (SMA). Methods: Case series study was conducted. Clinical data from 5 children with SMA and hypoglycemia who were treated at the Peking University First Hospital from January 2020 to December 2025 were collected and analyzed. The precipitating factors, clinical manifestations, laboratory findings, treatment, and prognosis of hypoglycemia were summarized. Results: Of the 5 children, 1 was male and 4 were female, and all had 5q SMA type 2. Hypoglycemia occurred 0.7-2.5 years after the initiation of disease-modifying therapy. The age at the first hypoglycemia episode occurred 5-13 years. Hypoglycemia occurred after an acute infection in 3 children and following fasting for routine follow-up examinations in the other 2 children. Three children had hypoglycemia-related symptoms, including vomiting, abdominal pain, hand tremor, sweating, and fatigue, whereas the other 2 children were asymptomatic. Urinary ketones were positive in all 5 children, 4 children had concurrent metabolic acidosis, and 4 children had serum creatinine levels below the age-specific reference range. Hypoglycemia was rapidly corrected in all 5 children after intravenous glucose administration or oral intake of glucose-containing beverage. Conclusions: Children with SMA may develop hypoglycemia, particularly during infection or fasting. Because its clinical manifestations of hypoglycemia may be nonspecific, clinicians should maintain a high level of vigilance, avoid prolonged fasting, and ensure timely energy supplementation. Hypoglycemia should remain a clinical consideration in patients receiving disease-modifying therapy.","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"64 10","pages":"1142-1146"},"PeriodicalIF":0.0,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148972562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Effectiveness and tolerability of ketogenic diet therapy in children with genetic developmental and epileptic encephalopathy onset within 2 years of age]. [生酮饮食治疗2岁以内遗传性发育性和癫痫性脑病患儿的疗效和耐受性]。

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260601-00430

T Y Song, J Deng, C H Chen, X H Wang, X J Tian, M L Wu, X Wang, H W Zhang, X Y Chen, Y Wang, Yushanjiang Niyazi, Gulixian Abudureyimu, F Fang

{"title":"[Effectiveness and tolerability of ketogenic diet therapy in children with genetic developmental and epileptic encephalopathy onset within 2 years of age].","authors":"T Y Song, J Deng, C H Chen, X H Wang, X J Tian, M L Wu, X Wang, H W Zhang, X Y Chen, Y Wang, Yushanjiang Niyazi, Gulixian Abudureyimu, F Fang","doi":"10.3760/cma.j.cn112140-20260601-00430","DOIUrl":"10.3760/cma.j.cn112140-20260601-00430","url":null,"abstract":"Objective: To investigate the effectiveness and tolerability of ketogenic diet therapy (KDT) in children with developmental and epileptic encephalopathy (DEE) caused by genetic variants onset within 2 years of age. Methods: A retrospective cohort study was conducted. Data were reviewed from 117 children with DEE who started KDT in the Department of Neurology of Beijing Children's Hospital Affiliated to Capital Medical University, Jinan Children's Hospital, Henan Children's Hospital and Urumqi Children's Hospital from January 2016 to June 2023. Data included demographic information, genetic testing results, KDT regimens, and treatment outcomes. Based on the effectiveness of KDT, the children were classified into 4 grades, Grade 1: seizure-free for at least 6 months; Grade 2: 75%-<100% seizure reduction; Grade 3: 50%-<75% seizure reduction; and Grade 4:<50% seizure reduction. The seizure-free group was defined as Grade 1, and the uncontrolled group as Grade 2+3+4; the significantly effective group was defined as Grade 1+2, and the non-responsive group as Grade 3+4. Inter-group comparisons were performed using the χ2 test, the independent sample t-test, or the Mann-Whitney U test. Results: A total of 90 children were enrolled, including 44 males and 46 females, with the age at seizure onset of 2.0 (0.7, 5.3) months. Thirty genes were involved, with ion channels being the most common neurobiological mechanism (49 children (54%)), followed by synaptic function (7 children (8%)). The age at KDT initiation was 11.0 (5.8, 21.8) months, and the time interval between seizure onset and KDT initiation was 8.0 (4.0, 18.3) months. Following KDT, 31 children (34%) achieved Grade 1 (seizure freedom), 19 children (21%) achieved Grade 2, 13 children (14%) achieved Grade 3, and 27 children (30%) achieved Grade 4. There were 24, 9, 9, 6, 5, and 5 children with SCN1A, CDKL5, SCN2A, KCNQ2, STXBP1 and KCNT1 genes variants, respectively; 7, 4, 2, 2, 4, and 1 of these children, respectively, achieved seizure freedom. Among the seizure-free and uncontrolled groups (31 and 59 children), the maintenance lipid-to-nonlipid ratio was (2.2±0.7) and (2.5±0.7):1, 19 children (61%) and 22 children (37%) had non-ion channel gene variants, respectively, both represented statistically difference (both P<0.05). Among the significantly effective and non-responsive groups (50 and 40 children), there were 31 females (62%) and 15 females (38%), the interval between seizure onset and KDT initiation was 6.0 (3.8, 12.3) and 10.0 (5.3, 27.5) months, both with statistically difference (both P<0.05). Adverse events occurred in 59 children (66%), with gastrointestinal symptoms being the most common (53 children). The main reasons for discontinuing KDT in 73 children were dissatisfaction with efficacy (29 children (40%)) and adverse reactions (14 children (19%)); among them, 2 were due to intolerance resulting from a rapid i","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"64 10","pages":"1130-1136"},"PeriodicalIF":0.0,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148972603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Prioritizing risk prevention and safety supervision to advance epilepsy gene therapy steadily and soundly]. 【把风险防范和安全监管放在首位，稳妥稳妥推进癫痫基因治疗】。

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260804-00600

Y W Jiang

引用次数: 0

[Research progress on onset trajectory and prevention of childhood asthma based on birth cohorts]. [基于出生队列的儿童哮喘发病轨迹及预防研究进展]。

中华儿科杂志 Pub Date : 2026-10-02 DOI: 10.3760/cma.j.cn112140-20260306-00186

H F Fan, G Lu, L Deng

引用次数: 0

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