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Pregnancy lifestyle interventions and child health: lessons learned from the GeliS trial.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-27 DOI: 10.1038/s41390-025-04035-8
Gregory P Goldstein, Elizabeth Yen, Jonathan M Davis
{"title":"Pregnancy lifestyle interventions and child health: lessons learned from the GeliS trial.","authors":"Gregory P Goldstein, Elizabeth Yen, Jonathan M Davis","doi":"10.1038/s41390-025-04035-8","DOIUrl":"https://doi.org/10.1038/s41390-025-04035-8","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Altered spontaneous neural activity and its association with cognition, abdominal fat and liver function in children with obesity.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-27 DOI: 10.1038/s41390-025-03995-1
Kun Liu, Zheng Cai, Mei Huang, Xiao-Yan Huang, Jia-Wen Song, Xin-Jian Ye, Yong-Jin Zhou, Shi-Han Cui, Xiao-Zheng Liu, Zhi-Han Yan, Pei-Ning Liu
{"title":"Altered spontaneous neural activity and its association with cognition, abdominal fat and liver function in children with obesity.","authors":"Kun Liu, Zheng Cai, Mei Huang, Xiao-Yan Huang, Jia-Wen Song, Xin-Jian Ye, Yong-Jin Zhou, Shi-Han Cui, Xiao-Zheng Liu, Zhi-Han Yan, Pei-Ning Liu","doi":"10.1038/s41390-025-03995-1","DOIUrl":"https://doi.org/10.1038/s41390-025-03995-1","url":null,"abstract":"<p><strong>Background: </strong>The spontaneous neural activity alterations and their correlations with cognition, abdominal fat, and liver function in children with obesity remains unclear. This study examined the spontaneous neural activity variations in children with obesity using fractional amplitude of low-frequency fluctuation (fALFF) analysis and correlated the findings with clinical data.</p><p><strong>Methods: </strong>Fifty-nine children with obesity and forty-eight healthy controls underwent resting-state functional MRI. The brain regions with altered fALFF values between the two groups were extracted and the correlations with clinical data were assessed.</p><p><strong>Results: </strong>Compared with controls, children with obesity had higher fALFF values in the left insula, left superior temporal gyrus (STG), left middle frontal gyrus and right middle cingulate gyrus (MCG). In the obesity group, fALFF values in the left STG positively correlated with visceral and subcutaneous adipose tissue area and verbal comprehension index. Contrastingly, fALFF values in the right MCG positively correlated with alanine aminotransferase and aspartate aminotransferase levels.</p><p><strong>Conclusions: </strong>Childhood obesity is associated with impaired spontaneous neural activity in brain regions linked to salience, self-control and inhibition, and verbal comprehension. In children with obesity, language comprehension may be impacted by STG's neural activity, whilst regional neural activity may be influenced by abdominal fat and liver function.</p><p><strong>Impact: </strong>Childhood obesity is linked to diminished verbal understanding and impaired spontaneous neural activity in brain that handle salience, executive function, and verbal processing. The ability to comprehend language can be compromised in children with obesity due to changes in spontaneous neural activity. Regional spontaneous neural activity may be affected by abdominal fat and liver function in children with obesity.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Enteral feeding in pediatric patients with bronchiolitis requiring non-invasive support via nasal interface.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-27 DOI: 10.1038/s41390-025-04022-z
Kelsey Finnegan, Julia Smalley, Barbara Gallagher, Michael Salt, Kimberly Whalen, Michael R Flaherty
{"title":"Enteral feeding in pediatric patients with bronchiolitis requiring non-invasive support via nasal interface.","authors":"Kelsey Finnegan, Julia Smalley, Barbara Gallagher, Michael Salt, Kimberly Whalen, Michael R Flaherty","doi":"10.1038/s41390-025-04022-z","DOIUrl":"https://doi.org/10.1038/s41390-025-04022-z","url":null,"abstract":"<p><strong>Background and objectives: </strong>The benefits of enteral feeding in critically ill children have been well described, but the use of non-invasive respiratory support has been shown to delay initiation of feeds, in part due to safety concerns. We aimed to examine the association of enteral feeding by mouth and orogastric tube on clinically significant adverse events in children with bronchiolitis being treated with non-invasive respiratory support via nasal interfaces.</p><p><strong>Methods: </strong>A retrospective cohort study of patients 0-24 months of age between 2016 and 2022 in a quaternary care hospital pediatric intensive care unit with a diagnosis of bronchiolitis and treatment with non-invasive respiratory support via nasal interface. Standard comparative statistics and multivariable regression were used to determine the association between oral and nasogastric feeding and clinically significant outcomes such as new diagnosis of pneumonia and escalation in respiratory support, as well lengths of stay.</p><p><strong>Results: </strong>There were 407 patients 24 months or younger who were admitted with bronchiolitis and treated with non-invasive respiratory support. There was a 4.65 increased odds of developing a new pneumonia for patients who were fed nasogastrically versus orally. There were no differences in the development of pneumonia based on type of respiratory support, whether an escalation in respiratory support was needed, or based on the highest level of support received. Both pediatric intensive care unit and overall hospital lengths of stay were decreased in those who were orally fed.</p><p><strong>Conclusions: </strong>Enteral feeding in children with bronchiolitis receiving non-invasive respiratory support appears to be safe and not associated with escalation in support or new diagnoses of pneumonia. Oral feeds were associated with decreased lengths of stay. Further work is needed to assess long term safety and ability to achieve adequate nutritional requirements.</p><p><strong>Impact: </strong>Enteral feeding of children with bronchiolitis requiring non-invasive respiratory support via nasal interfaces did not have an effect on clinically significant adverse events Feeding by mouth led to decreased risk of pneumonia and shorter inpatient length of stay Future work is needed to study the ability to achieve nutrition goals when feeding by mouth on non-invasive support.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screen time is a predictor of cognitive function in children with attention deficit hyperactivity disorder.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-26 DOI: 10.1038/s41390-025-04026-9
Han-Yu Dong, Li-Li Wang, Miao-Shui Bai, Lin Du, Xiao-Jing Yue
{"title":"Screen time is a predictor of cognitive function in children with attention deficit hyperactivity disorder.","authors":"Han-Yu Dong, Li-Li Wang, Miao-Shui Bai, Lin Du, Xiao-Jing Yue","doi":"10.1038/s41390-025-04026-9","DOIUrl":"10.1038/s41390-025-04026-9","url":null,"abstract":"<p><strong>Background: </strong>Screen exposure may affect cognitive function in children with attention deficit hyperactivity disorder (ADHD). We aimed to investigate the relationship between screen time and cognitive function in children with ADHD and explore other risk factors for cognitive function.</p><p><strong>Methods: </strong>The study included 184 patients with ADHD (aged 6-16 years). Socioeconomic and demographic information was collected. We assessed the core symptoms of ADHD, intelligence quotient (IQ), cognitive function (using the Das-Naglieri cognitive assessment system [DN:CAS] Chinese version), and screen time per day. Multiple linear regression was used to evaluate the factors associated with DN:CAS subscales.</p><p><strong>Results: </strong>A higher full IQ (p < 0.001), shorter screen time per day (p < 0.001), and higher maternal education level (p = 0.029) were predictors of better scores on the DN:CAS full scale.</p><p><strong>Conclusion: </strong>IQ, screen time, and maternal education are predictors of cognitive function in children and adolescents with ADHD. Hence, parents should understand the importance of controlling their children's screen time to enhance their cognitive function.</p><p><strong>Impact: </strong>IQ, screen time, and maternal education are predictors of cognitive function in children and adolescents with ADHD. Thus, parents should understand the importance of controlling their children's screen time to enhance their cognitive function. Our application of DN:CAS as a cognitive assessment tool is advantageous compared to the Wechsler intelligence test. The DN:CAS Chinese version is a theory-driven assessment kit, developed based on the PASS (planning, attention, simultaneous, and successive) theory assessing cognitive function. The PASS theory is an example of a terminal cognitive processing theory based on the view of functional regions of brain operation and cognitive psychology.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of continuous transcutaneous CO2 monitoring on ventilation management in preterm infants on high-frequency ventilation (HFV).
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-25 DOI: 10.1038/s41390-025-04033-w
Agustin Bernatzky, Yanin Fontana Stiglich, Maria Brandani, Pablo Hernan Brener Dik, Gonzalo Luis Mariani
{"title":"Impact of continuous transcutaneous CO2 monitoring on ventilation management in preterm infants on high-frequency ventilation (HFV).","authors":"Agustin Bernatzky, Yanin Fontana Stiglich, Maria Brandani, Pablo Hernan Brener Dik, Gonzalo Luis Mariani","doi":"10.1038/s41390-025-04033-w","DOIUrl":"https://doi.org/10.1038/s41390-025-04033-w","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early career investigator (ECI) highlight.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-25 DOI: 10.1038/s41390-025-04013-0
Carlo Pietrasanta
{"title":"Early career investigator (ECI) highlight.","authors":"Carlo Pietrasanta","doi":"10.1038/s41390-025-04013-0","DOIUrl":"https://doi.org/10.1038/s41390-025-04013-0","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neonatal encephalopathy and hypoxic-ischemic encephalopathy: the state of the art.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-24 DOI: 10.1038/s41390-025-03986-2
Ela Chakkarapani, Linda S de Vries, Donna M Ferriero, Alistair J Gunn
{"title":"Neonatal encephalopathy and hypoxic-ischemic encephalopathy: the state of the art.","authors":"Ela Chakkarapani, Linda S de Vries, Donna M Ferriero, Alistair J Gunn","doi":"10.1038/s41390-025-03986-2","DOIUrl":"10.1038/s41390-025-03986-2","url":null,"abstract":"<p><p>Neonatal Encephalopathy (NE) remains a major cause of death and long-term severe disabilities, including epilepsy and cerebral palsy in term and near-term infants. The single most common cause is hypoxic-ischemic encephalopathy (HIE). However, there are many other potential causes, including infection, intracranial hemorrhage, stroke, brain malformations, metabolic disorders, and genetic causes. The appropriate management depends on both the specific cause and the stage of evolution of injury. Key tools to expand our understanding of the timing and causes of NE include aEEG, or even better, video EEG monitoring, neuro-imaging including cranial ultrasound and MRI, placental investigations, metabolic, biomarker, and genetic studies. This information is critical to better understand the underlying causes of NE. Therapeutic hypothermia improves outcomes after HIE, but there is still considerable potential to do better. Careful clinical and pre-clinical studies are needed to develop novel therapeutics and to help provide the right treatment at the right time for this high-risk population. IMPACT: Neonatal encephalopathy is complex and multifactorial. This review seeks to expand understanding of the causes, timing, and evolution of encephalopathy in newborns. We highlight key unanswered questions about neonatal encephalopathy.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patterns of brain structure-function coupling variations related to height and growth hormone in children with short stature.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-24 DOI: 10.1038/s41390-025-04003-2
Yi Lu, Xiaojun Chen, Jing Tang, Yang Yang, Tao Yang, Xiaoou Shan, Zhihan Yan, Xiaozheng Liu
{"title":"Patterns of brain structure-function coupling variations related to height and growth hormone in children with short stature.","authors":"Yi Lu, Xiaojun Chen, Jing Tang, Yang Yang, Tao Yang, Xiaoou Shan, Zhihan Yan, Xiaozheng Liu","doi":"10.1038/s41390-025-04003-2","DOIUrl":"https://doi.org/10.1038/s41390-025-04003-2","url":null,"abstract":"<p><strong>Background: </strong>Adolescents with varied growth hormone (GH) levels exhibit height discrepancies. This study investigated the association of height and GH on structural-functional connectivity (SC-FC) coupling within brains of growth hormone deficiency (GHD), idiopathic short stature (ISS), and healthy controls (HC).</p><p><strong>Methods: </strong>Retrospective analysis of 79 GHD, 88 ISS, and 37 HC subjects was performed, incorporating clinical, behavioral assessments, and multimodal brain MRI data. SC-FC coupling matrices were derived from diffusion tensor imaging (DTI) and resting-state functional MRI (rs-fMRI). Group comparisons used ANOVA and Tukey HSD tests, while partial correlation assessed correlations of hormone levels and cognitive scores.</p><p><strong>Results: </strong>Both short-statured groups (GHD and ISS) displayed reduced hormone levels, cognitive behavioral scores, and SC-FC coupling in primary sensory regions (visual (VIS) and sensorimotor network (SMN)) compared to HC. Bilateral SMN showed the highest intra-network variability amongst all groups. GHD exhibited greater inter-network SC-FC coupling variability than ISS, with HC showing the least. A negative correlation between peak GH levels and SC-FC coupling across multiple networks was observed exclusively in GHD.</p><p><strong>Conclusion: </strong>Height and GH distinctly influenced brain structure-function coupling in children with short stature. Reduced SC-FC coupling in primary sensory regions highlights their vulnerability to developmental variations.</p><p><strong>Impact: </strong>The study demonstrates that height and growth hormone (GH) levels have distinct impacts on brain structure-function coupling (SC-FC) in children with short stature, with primary sensory regions (e.g., visual and sensorimotor networks) being particularly vulnerable. The findings highlight the susceptibility of primary sensory brain regions to developmental variations and suggest that GH plays a critical role in modulating brain connectivity, particularly in the GHD group. The study underscores the importance of early intervention for children with GHD, as reduced SC-FC coupling in primary sensory regions may correlate with cognitive and behavioral outcomes.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
COVID-19's causal impact on child abuse and socioeconomic status: a Bayesian time series study.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-24 DOI: 10.1038/s41390-025-03996-0
Foad Kazemi, Jiaqi Liu, Isam W Nasr, Charbel Chidiac, Shenandoah Robinson, Alan R Cohen
{"title":"COVID-19's causal impact on child abuse and socioeconomic status: a Bayesian time series study.","authors":"Foad Kazemi, Jiaqi Liu, Isam W Nasr, Charbel Chidiac, Shenandoah Robinson, Alan R Cohen","doi":"10.1038/s41390-025-03996-0","DOIUrl":"10.1038/s41390-025-03996-0","url":null,"abstract":"<p><strong>Background: </strong>The COVID-19 pandemic intensified psychosocial stressors, potentially contributing to increased rates of child abuse. This study aimed to compare trends in child abuse/traumatic brain injury (TBI) admissions and socioeconomic status before and after the pandemic.</p><p><strong>Methods: </strong>A 7-year retrospective study was conducted at a Level-1 Pediatric Trauma Center. TBI cases were identified using ICD-10 codes based on the modified CDC framework. Neighborhood disadvantage and injury severity were measured using the Social Deprivation Index (SDI) and Injury Severity Score (ISS), respectively, with higher scores indicating greater disadvantage and severity. A Bayesian structural time series (BSTS) model was employed to assess the causal impact of COVID-19 on monthly child abuse/TBI admissions, SDI, and ISS.</p><p><strong>Results: </strong>The study included 560 child abuse cases, with 62.3% involving TBI. Before COVID-19, monthly admissions averaged 5.89 for child abuse and 3.70 for child abuse with TBI, with corresponding SDI scores of 60.07 and 57.60. During the COVID era, monthly averages rose to 8.77 and 5.58 (p = 0.001, p < 0.001), and SDI scores increased to 66.32 and 61.60 (p = 0.053, p = 0.370). BSTS analysis inferred a causal impact of COVID-19 on monthly child abuse admissions (p = 0.001), monthly child abuse admissions sustaining TBI (p = 0.001), an upward trend in average monthly SDI scores (p = 0.033), and a decrease in average monthly ISS (p = 0.001).</p><p><strong>Conclusions: </strong>The study indicates a significant increase in child abuse/TBI admissions and heightened neighborhood disadvantage during the COVID-19 pandemic.</p><p><strong>Impact: </strong>This study uses Bayesian structural time series analysis to assess the COVID-19 pandemic's causal impact on child abuse and traumatic brain injury (TBI) admissions. The pandemic is linked to increased child abuse admissions and TBI cases, correlating with worsening socioeconomic conditions indicated by higher Social Deprivation Index scores. Admissions did not rise significantly during the early pandemic (first 3 months, p = 0.160), but mid-to-late phases showed a significant increase (p = 0.001). Injury severity, as measured by Injury Severity Score, declined, suggesting less severe injuries during the pandemic. These findings emphasize the need for proactive interventions and continuous surveillance to protect vulnerable populations.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring genotype-phenotype correlation in nucleoporin nephropathy.
IF 3.1 3区 医学
Pediatric Research Pub Date : 2025-03-24 DOI: 10.1038/s41390-025-03977-3
Yuxin Pei, Mengjie Jiang, Lin Zhilang, Liping Rong, Lizhi Chen, Xiaoyun Jiang
{"title":"Exploring genotype-phenotype correlation in nucleoporin nephropathy.","authors":"Yuxin Pei, Mengjie Jiang, Lin Zhilang, Liping Rong, Lizhi Chen, Xiaoyun Jiang","doi":"10.1038/s41390-025-03977-3","DOIUrl":"https://doi.org/10.1038/s41390-025-03977-3","url":null,"abstract":"<p><strong>Background: </strong>Nucleoporin nephropathy, a rare genetic kidney disorder, is not well-characterized despite its early onset in childhood.</p><p><strong>Method: </strong>We analyzed the clinical and genetic data of pediatric patients diagnosed with nucleoporin nephropathy at a southern Chinese pediatric nephrology center, and reviewed global cases reported up until July 2024.</p><p><strong>Results: </strong>In our center, five pediatric patients (aged 10 months to 8 years) were diagnosed with nucleoporin nephropathy. Three presented with steroid-resistant nephrotic syndrome, and one had initial extrarenal symptoms. All patients progressed to end-stage kidney disease. Global data shows 111 cases of nucleoporin nephropathy; 76.6% of patients initially presented with nephrotic syndrome, unresponsive to steroids or immunosuppressive therapy. 89.4% progressed to end-stage kidney disease in adolescence. Among the 37 transplant recipients, only 2 had proteinuria recurrence. Neurological symptoms were observed in a significant portion of patients, with variation across genotypes. East Asian patients, who account for 40.4% of the cases, often exhibit compound heterozygous missense, early renal involvement, and fewer extrarenal symptoms.</p><p><strong>Conclusion: </strong>Routine nucleoporin gene testing is advised for Asian children with steroid-resistant nephrotic syndrome or end-stage kidney disease to prevent unnecessary treatments. While kidney transplantation has a favorable outlook, managing extrarenal symptoms of nucleoporin pehropathy is challenging.</p><p><strong>Impact: </strong>Explore the link between nucleoporin gene mutations and disease phenotypes for a new understanding of NUP nephropathy. The renal phenotypes associated with NUP mutations display a remarkably consistent pattern as early-onset SRNS and progression to ESKD in adolescence. Highlight the importance in finding and managing the extrarenal symptoms associated with nucleoporin nephropathy. Regional specificities in NUP gene mutations are becoming apparent, with East Asian patients often presenting compound heterozygous mutations, early onset, rapid progression to end-stage kidney disease, and fewer extrarenal symptoms. Emphasize the necessity of nucleoporin gene testing for Asian children to prevent ineffective treatments.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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