Table of Content

15 August 2025 Volume 43 Issue 8

  

Commentary

Clinical characteristics, diagnosis and treatment progress of functional gastrointestinal disorders in infants aged 0-6 months

LI Zailing

Journal of Clinical Pediatrics. 2025, 43(8):  563-568.  doi:10.12372/jcp.2025.25e0693

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Infants aged 0-6 months are at high risk of functional gastrointestinal disorders (FGIDs) derived from immaturity of various systems, among which infant regurgitation and infant colic are predominant. Infants cannot accurately express their feelings, and some symptoms overlap with organic diseases, which are prone to induce anxiety and depression in overly concerned parents. Therefore, appropriate diagnosis and management helps to release symptoms, ease parents’ fear, and improve quality of life. Diagnostic criteria in China include “Rome IV-Functional GI Disorders: Disorders of Gut-Brain Interaction” and “Chinese expert consensus on the diagnosis of functional dyspepsia syndrome”, which hold different aspects according to concrete conditions and are utilized based on clinical judgement. Infants aged 0-6 months have milk as single nutrition source. Breastfeeding should remain the priority, while specific formula might be chosen in formula-fed infants based on comprehensive considerations including, the severity of problems, parents’ perspective, and family economic burden, etc. Management strategies include health education, nurturing guidance and nutritional intervention. Pharmaceutical treatment is not required in most situations.

The significance, progress and challenges of optimizing the protein composition of infant formula based on human breast milk

JIANG Zhuoqin

Journal of Clinical Pediatrics. 2025, 43(8):  569-574.  doi:10.12372/jcp.2025.25e0684

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Human milk is the optimal food for infants. Proteins in human milk provide essential amino acid for growth, and multiple bioactivities for immunity and neurodevelopment. As a breastfeeding substitute, the ultimate goal of infant formula modification is a feeding outcome similar to breast feeding. The strategies to optimize proteins in infant formula including: lower protein content, addition of validated human milk bioactive proteins, adjustment of protein structure based on human milk. Although efforts have been made, there is still a huge gap between human milk and infant formula which need further research.

Original Article

Antigenic genotypic characteristics and antibiotic resistance analysis of Bordetella pertussis in two regions of Fujian province

SHI Xiaosong, FU Shijie, HE Xiaohua, LYU Hui, CHEN Houyang, CHEN Maolin, CHEN Jie

Journal of Clinical Pediatrics. 2025, 43(8):  575-582.  doi:10.12372/jcp.2025.25e0425

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Objective To analyze the genetic polymorphism of antigenic genes and antimicrobial resistance phenotypes of Bordetella pertussis (BP) in Fuzhou and Youxi, Fujian Province, China, and to provide scientific evidence for optimizing vaccination strategies and antibiotic use. Methods A total of 336 nasopharyngeal swab specimens from suspected pertussis cases were collected from both regions in 2024. Bacterial culture, isolation, and identification were performed. Polymorphism and mutations were determined by analyzing seven antigenic genes (ptxP, ptxA, ptxC, prn, fim3, fim2, tcfA) and the 23S rRNA A2047 locus. A maximum-likelihood phylogenetic tree was constructed based on core-genome single nucleotide polymorphisms (cgSNPs). The minimum inhibitory concentrations (MICs) of macrolides, sulfonamides, and β-lactams were determined using the E-test method. Results Twenty-nine BP clinical isolates were successfully obtained (8.6%, 29/336). Antigenic gene profiling revealed that the predominant genotype was ptxP3/prn2/ptxC1/ptxA1/fim2-1/fim3-1/tcfA2 (55.2%, 16/29), with ptxP3/prn2/ptxA1 strains accounting for 72.4% (21/29). Four prn150 mutant strains were identified (13.8%, 4/29). Phylogenetic analysis demonstrated that the vaccine strain CS formed an independent evolutionary branch (Cluster A). The 2024 Fujian isolates exhibited significant genetic divergence from pre-2020 domestic strains, forming two major clusters: Cluster B (ptxP3/prn2/ptxA1, containing most Fujian isolates) and Cluster C (ptxP1/prn1/ptxA1, comprising historical isolates). The 23S rRNA A2047G mutation conferring macrolide resistance was detected in all isolates, with MICs > 90 mg/L. MICs for TMP-SMX ranged from 0.005 to 0.45 mg/L. MICs for β-lactams (ceftriaxone, cefotaxime, cefoperazone/sulbactam) ranged from 0.004 to 0.64 mg/L. Conclusion The epidemic strains of BP circulating in Fujian exhibit distinct antigenic gene evolutionary patterns and widespread macrolide resistance. These findings highlight the urgent need to strengthen molecular genotyping-based surveillance of vaccine components and optimize antimicrobial therapy based on susceptibility profiles.

Prenatal diagnosis and genetic counseling of 1q21.1 microdeletion/ microduplication syndrome in 39 fetuses

LIN Pengwu, ZHU Shaohua, ZHAO Zhongying, WANG Jing, HAO Shengju, ZHANG Qinghua, FENG Xuan

Journal of Clinical Pediatrics. 2025, 43(8):  583-589.  doi:10.12372/jcp.2025.25e0085

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Objective To investigate the clinical phenotype, genetic counseling, pregnancy outcomes, and long-term developmental outcomes of fetuses with 1q21.1 microdeletion/ microduplication syndrome, and to provide a comprehensive clinical picture of fetuses with this copy number variation to inform clinical decision-making. Methods A retrospective analysis was conducted of pregnant women from January 2017 to December 2022. Results 39 cases of 1q21.1 microdeletion/microduplication syndrome fetuses were identified, with a detection rate of 0.16% (39/24,240). The size range of the copy number variation segments was 0.24 Mb to 62.34 Mb, with 22 cases (56.4%) being 1q21.1 microdeletions and 17 cases (43.6%) being 1q21.1 microduplications. Among the 22 cases of 1q21.1 microdeletion fetuses, 10 had prenatal ultrasound abnormalities (10/22, 45.6%), 4 had high-risk non-invasive/serological screening results (4/22, 18.2% ), 5 cases were of advanced maternal age (5/22, 22.7%), and 3 cases had a history of adverse pregnancy outcomes (3/22, 13.6%); among the deletion cases, 6 underwent parental origin testing, revealing 2 de novo mutations, 3 paternal origin, and 1 maternal. Among the 17 cases of 1q21.1 microduplication fetuses, 8 had prenatal ultrasound abnormalities (8/17, 45.6%), 4 had high-risk non-invasive/serological screening results (5/17, 29.4%), 5 were of advanced maternal age (2/17, 11.8%), and 3 had a history of adverse pregnancy outcomes (3/17, 17.6%); among the repeat cases, only 1 case showed a de novo mutation after parental lineage tracing. Conclusion 1q21.1 microdeletions/microduplications exhibit diverse manifestations during fetal development. CNV-seq technology holds significant value for detecting fetal cases of chromosomal microdeletion/microduplication syndromes, including 1q21.1.

Genetic and clinical characteristics analysis of 10 children with ATP1A2/ATP1A3 gene variants

PEI Pei, LI Weihua, HUAI Wan, YAO Ruen, GE Hejia, WANG Jiwen, WANG Xiumin, JI Wei, ZHOU Yunqing, HE Yingzhong, HAN Feng

Journal of Clinical Pediatrics. 2025, 43(8):  590-597.  doi:10.12372/jcp.2025.24e1372

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Objective To summarize the genetic clinical manifestations and mutation typing of 10 pediatric patients with ATP1A2 and ATP1A3 gene mutations, enriching the understanding of the genotype-phenotype correlation of this disease and promoting the understanding of this disease by clinicians. Methods A retrospective collection of clinical data from 10 pediatric patients with ATP1A2 and ATP1A3 gene mutations treated at Hospital from November 2015 to June 2024 was conducted. The genetic and clinical characteristics were analyzed, and a literature search was performed to summarize the relationship between the reported types of ATP1A2 and ATP1A3 gene mutations and their clinical manifestations. Results This study included 10 pediatric patients (3 girls and 7 boys), and the age of onset ranged from birth to 14 years old. Three children had onset with convulsions, 2 with muscle weakness, 1 with hemiplegia, 1 with alternating hemiplegia, 1 with attention deficit disorder accompanied by enuresis, 1 with convulsions combined with muscle weakness, and 1 with language and motor disabilities. Genetic testing identified ATP1A2 mutations in 3 cases and ATP1A3 mutations in 7 cases, all of which were point mutations. The mutation sites c.587G>A(p.Arg196His) and c.2841-2A>C in the ATP1A2 gene (NM_000702.3), as well as c.1013C>T(p.Ala338Val) and c.2426C>A(p.Ala809Asp) in the ATP1A3 gene (NM_152296.4) have not been previously reported. Conclusions The newly discovered mutations enrich the mutation spectrum of ATP1A2 and ATP1A3 genes and their clinical manifestations. Meanwhile, it suggests to clinicians that for diseases presenting initially with neurological symptoms such as epilepsy, muscle weakness, and hemiplegia, if the treatment outcome is suboptimal, gene testing should be promptly carried out to establish a definite diagnosis.

Thyroxine binding globulin deficiency in three families and review of the literature

LI Miaomiao, PAN Guimei, LIU Lei, CHEN Qiong, LI Yangshiyu, ZHANG Zixia, WANG Xi, DU Mengmeng, WEI Haiyan, CHEN Yongxing

Journal of Clinical Pediatrics. 2025, 43(8):  598-603.  doi:10.12372/jcp.2025.25e0349

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Objective To investigate the clinical characteristics and genetic features of thyroid-binding globulin (TBG) deficiency, enhance the accuracy of clinical diagnosis, and avoid misdiagnosis and overtreatment. Methods Members from three different families were subjected to SERPINA7 gene sequencing to explore its genetic basis. Results The variants detected in the three families through whole-exome sequencing occurred in exons, specifically c.712A>G(p.M238V), c.1114delC(p.L372Ffs*23), and c.383-401dup(p.F135Afs*21), with the variants in Family 1 and Family 3 being reported for the first time. Conclusion TBG deficiency does not require special treatment; correct diagnosis and comprehensive disease education are key to the management of this condition. This study identified two new SERPINA7 gene variants, expanding the mutation spectrum of this gene.

Clinical features, prognosis and neurophysiological characteristics of children with acute anti-GQ1b antibody syndrome

LI Heting, SUN Ruidi, JIANG Jun

Journal of Clinical Pediatrics. 2025, 43(8):  604-609.  doi:10.12372/jcp.2025.24e0955

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Objective To investigate the clinical, electrophysiological and prognosis of patients with acute anti-GQ1b antibody syndrome. Methods A retrospective analysis was performed on the clinical data of 24 children diagnosed with acute anti-GQ1b antibody syndrome between 2019 and 2023 at our hospital. Demographic characteristics, clinical manifestations, electrophysiological findings, and outcomes were systematically reviewed and analyzed. Results All 24 patients presented with acute onset of symptoms. The median age was 4.0 ( 2.0-13.5) years, with male predominance (62.5%). Common clinical features included reduced or absent tendon reflexes, ataxia, limb weakness, sensory disturbances, and cranial nerve involvement. Autonomic dysfunction was observed in 4 patients, and lethargy was noted in 2.Nine patients exhibited clinical features consistent with the Miller-Fisher syndrome (MFS) spectrum, including 5 with classical MFS and 4 with variant MFS. Eight patients displayed Guillain-Barré syndrome (GBS)-related phenotypes, comprising 3 classical GBS and 5 variant GBS cases. The remaining 7 patients were classified as mixed type, presenting overlapping features of MFS, GBS, and Bickerstaff’s brainstem encephalitis (BBE). In addition to anti-GQ1b antibodies, 15 patients had detectable levels of other anti-ganglioside antibodies, most commonly anti-GT1a and anti-GM1. Cerebrospinal fluid (CSF) analysis revealed protein-cell dissociation in 21 patients. Electrophysiological studies showed mild sensory nerve amplitude reduction in the MFS group, whereas both motor and sensory nerves were significantly affected in the GBS and mixed-type groups. All patients received intravenous immunoglobulin therapy. After 3-month follow-up, 15 patients demonstrated favorable neurological recovery. Patients with poor recovery were more likely to have cranial nerve injury, autonomic dysfunction, and higher GDS scores upon admission (P<0.05). Conclusion Acute anti-GQ1b antibody syndrome in children demonstrates a wide range of clinical phenotypes, with both axonal and demyelinating pathologies present. Follow-up nerve conduction studies conducted between 3 and 8 weeks post-onset are valuable for assessing electrophysiological subtypes and monitoring recovery. Approximately two-thirds of affected children achieve good functional outcomes, while those with cranial nerve involvement, autonomic dysfunction, or elevated initial GDS scores tend to have poorer prognosis.

Retrospective analysis of clinical features, dermoscopic characteristics and prognosis of acquired facial hyperpigmented macules in 54 pediatric cases

ZHANG Cheng, CAO Qiaoyu, ZHENG Luyao, LI Ming, GE Hongsong

Journal of Clinical Pediatrics. 2025, 43(8):  610-614.  doi:10.12372/jcp.2025.25e0310

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Objective Acquired facial hyperpigmented macules (AFHM) in children are localized to the face, affecting aesthetics and often causing concern and anxiety among parents. However, due to insufficient clinical awareness, misdiagnosis and missed diagnosis are not uncommon. This study aims to summarize the clinical and dermoscopic features of AFHM to improve clinicians' understanding of this condition. Methods A retrospective study was conducted, collecting clinical data from 54 pediatric patients diagnosed with AFHM at the Dermatology Department of Hospital between November 2021 and June 2023. The clinical manifestations, including patient demographics, rash characteristics, and dermoscopic findings, were summarized and analyzed using descriptive statistics. Results The male-to-female ratio was 1.7∶1, with a median onset age of 8 months (IQR: 5-10). Among the 33 patients who completed at least 2 years of follow-up, 90.91% (30 cases) experienced complete resolution of the lesions, with a mean resolution age of 3.17±0.75 years. The rashes predominantly affected the forehead (90.74%), temples (70.37%), and eyebrows (53.70%), with 74.07% of cases involving 2-3 sites. The number of lesions was mostly 10-20 (53.70%), with the long axis typically measuring 2-10 mm (70.37%). Bilateral distribution was observed in 92.59% of cases, and 61.11% had onset in autumn. Dermoscopy revealed brownish-red pseudo-reticular pigmented macules with telangiectasia in 88.89% of patients. Conclusion AFHM is a benign, self-limiting dermatosis in infants and young children, with distinctive clinical and dermoscopic features. For most cases, skin biopsy is not a necessary diagnostic step.

Clinical Report

Two cases of renal damage in twin children with co-morbid ANCA-associated vasculitis

MA Chenxi, LIU Jiuyu, ZHU Yihui, ZHANG Pei, GAO Chunlin, XIA Zhengkun

Journal of Clinical Pediatrics. 2025, 43(8):  615-620.  doi:10.12372/jcp.2025.24e1317

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Pediatric-onset anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of systemic small-vessel vasculitides characterized by ANCA production. Primary AAV in children is rare and is generally considered to arise from immune dysregulation, environmental factors, and infections, with no strong evidence of familial clustering. This report describes a pair of monozygotic twin sisters who developed AAV concurrently. The elder sister, aged 9 years, presented with "anemia for over 20 days and abnormal urinalysis findings for 3 days" and was diagnosed with ANCA-associated vasculitis and ANCA-associated nephritis. The younger sister, screened via urinalysis following her sister's diagnosis, was found to have hematuria and proteinuria, leading to a confirmatory diagnosis. Notably, the sisters exhibited distinct disease subtypes, severity grades, clinical manifestations, and treatment outcomes. The elder sister's renal pathology revealed ANCA-associated renal injury with concurrent immune complex deposits, correlating with poorer renal outcomes. In contrast, the younger sister achieved complete renal recovery after treatment. Extensive exome sequencing failed to identify pathogenic variants in either case.

Anti-DPPX antibody-associated autoimmune encephalitis with tic disorder as the first symptom: a case report

GUAN Qiuyue, XIE Yi, CHEN Liqing, LIU Yan

Journal of Clinical Pediatrics. 2025, 43(8):  621-627.  doi:10.12372/jcp.2025.24e0231

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A retrospective analysis was performed on the clinical data of a 7-year-old girl with anti-DPPX antibody-associated autoimmune encephalitis who initially presented with tic-like symptoms and subsequently developed significant behavioral abnormalities and frequent urination. This case was reviewed in conjunction with previously published literature on anti-DPPX-related autoimmune encephalitis to investigate the clinical features and prognosis of this condition when tic disorders are the initial symptom, hereby enhancing pediatricians' awareness of this rare presentation. The patient was admitted due to prominent tic-like symptoms and progressively exhibited behavioral abnormalities and frequent urination. Brain MRI showed no significant abnormalities, while EEG demonstrated a slowed background rhythm. Elevated titers of anti-DPPX antibodies were detected in both serum (1∶32) and cerebrospinal fluid (1∶1), and tumor-related screening revealed no abnormalities. Following immunotherapy, her symptoms significantly improved, and no recurrence was observed during the 15-month follow-up period. A total of 37 articles were reviewed, summarizing 88 cases of anti-DPPX-related autoimmune encephalitis. However, no cases presenting with tic disorders as the initial symptom have been reported. Anti-DPPX antibody-associated autoimmune encephalitis presenting with tic disorders as the initial symptom is exceedingly rare in children. In this case, immunotherapy yielded favorable results. Clinicists should be vigilant regarding the heterogeneity of this disease to avoid missed or delayed diagnoses.

Genetic and clinical characterization of a generalized epilepsy with febrile seizures plus family caused by heterozygous deletion of the STX1B gene

JIANG Yanli, SHAO Xinhua, WU Zhenfei, YAN Lulu, XIE Min, ZHUANG Danyan, LI Haibo

Journal of Clinical Pediatrics. 2025, 43(8):  628-634.  doi:10.12372/jcp.2025.24e1096

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Objective To investigate the genetic basis of a family with generalized epilepsy with febrile seizures plus (GEFS+) and to perform integrated genetic and clinical analysis. Methods Clinical data were collected from a pediatric patient presenting with febrile seizures and his family members who visited the Neurology Department of Women and Children's Hospital of Ningbo University in February 2022. Peripheral blood DNA was extracted from the proband, his sister, and their parents. Whole-exome sequencing (WES) was conducted to identify potential pathogenic gene variants, followed by real-time fluorescent quantitative polymerase chain reaction (qPCR) for validation and pathogenicity assessment of candidate variants. Relevant literature was also reviewed. Results Both the proband and his sister carried a heterozygous deletion spanning exons 8-9 and part of exon 10 of the STX1B gene (STX1B exon 8-9 del, exon 10 partial del), which was maternally inherited. The proband was a 2.5-year-old boy who presented with fever-associated convulsions characterized as generalized tonic-clonic seizures. Without treatment, he experienced one additional seizure during follow-up with similar features. His sister had a history of childhood febrile seizures and later developed epilepsy. She was treated with sodium valproate and levetiracetam over 5 years, resulting in seizure control, with no intellectual or motor impairments observed. The mother had a personal history of childhood febrile seizures and epilepsy, and remained seizure-free after discontinuation of antiepileptic drugs following a 3-year course. A comprehensive literature review identified 65 reported cases of STX1B-related epilepsy involving 34 distinct variant sites. Missense variants were most commonly reported. Clinical manifestations showed significant heterogeneity in seizure types, and prognosis varied depending on the specific variant. Conclusion This study identified a novel heterozygous deletion in the STX1B gene encompassing exons 8-9 and part of exon 10, which has not been previously described. Follow-up findings suggest that epilepsy associated with this newly identified variant responds well to antiepileptic drug therapy. Despite episodes of febrile seizures, no cognitive or neurological deficits were observed.

Literature Review

Research progress on the role of airway epithelial cells and related cytokines in asthma

ZHAO Yu, ZOU Wenjing, FU Zhou

Journal of Clinical Pediatrics. 2025, 43(8):  635-642.  doi:10.12372/jcp.2025.24e1083

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Asthma is a common chronic airway inflammatory disease, which is characterized by non-specific airway inflammation, airway remodeling and airway hyperresponsiveness. For many years, the pathogenesis of asthma has mainly focused on immune imbalance caused by allergic reaction, but in recent years, attention has been paid to the role and mechanism of airway epithelial injury in the occurrence and development of asthma, which may be a key factor in the pathogenesis and control of asthma. Airway epithelium is the first barrier of human respiratory system to resist the harmful stimulation of external environment, and it is also the most important structural cell of airway. When asthma patients inhale harmful substances and allergens, airway epithelial cells are first invaded and damaged, and a variety of inflammatory mediators and cytokines are synthesized and released to activate immune cells, inducing the occurrence and development of asthma. This paper aims to review the pathogenesis of airway epithelial injury in asthma, the pathological changes of airway epithelial in asthma patients and its key cytokines, in order to find potential biomarkers and therapeutic targets, and provide basis for early prediction and accurate prevention and treatment of asthma.