Clinical and Experimental Pediatrics最新文献

{"title":"Thyroid peroxidase gene variants and susceptibility to congenital hypothyroidism and autoimmune thyroid disease among Egyptian pediatric cohort.","authors":"Hala M Sakhr, Mohammed H Hassan, Esraa Abbass Abdallah, Amira Mahmoud Ewis, Mohamed Hesham Mohamed, Shymaa Gaber Rizk","doi":"10.3345/cep.2025.02957","DOIUrl":"10.3345/cep.2025.02957","url":null,"abstract":"<p><strong>Background: </strong>Pediatric thyroid disorders arise from complex interactions among genetic susceptibility, immune dysregulation, and metabolic factors that influence their onset and severity.</p><p><strong>Purpose: </strong>This study aimed to evaluate the clinical, biochemical, micronutrient, and genetic determinants of thyroid dysfunction in children with particular emphasis on the thyroid peroxidase (TPO) Arg386His and Thr725Pro polymorphisms.</p><p><strong>Methods: </strong>This case-control study enrolled 150 Egyptian children aged 2-15 years, including 50 with congenital hypothyroidism (CH), 50 with autoimmune thyroiditis (AIT), and 50 controls. The participants underwent clinical assessments, routine laboratory investigations, thyroid function tests, and tests for selenium, copper, and thyroid autoantibodies (Tg Abs and TPO Abs). Following genomic DNA extraction from peripheral blood, the TPO gene polymorphisms (Arg386His and Thr725Pro) were analyzed using polymerase chain reaction-restriction fragment length polymorphism.</p><p><strong>Results: </strong>Children with thyroid disorders exhibit a higher prevalence of anemia and significantly lower ferritin levels. Profound micronutrient disturbances were evident and characterized by severe selenium deficiency and elevated copper concentrations. The genetic analysis demonstrated a strong association between the TPO exon-8 Arg386His polymorphism and pediatric thyroid disorders. The His allele and His-containing genotypes were significantly more frequent among cases, particularly in children with CH. A genotype-phenotype correlation revealed that the histidine/histidine (His/His) genotype was consistently associated with the highest serumthyroid-stimulating hormone levels in both CH and AIT, suggesting greater functional impairment of thyroid hormone synthesis. Distinct genetic patterns were observed between disease subtypes, with a predominance of the His allele in CH and the Arg allele in AIT. No variation was detected in the Thr725Pro polymorphism, and all participants exhibited the Thr/Thr genotype.</p><p><strong>Conclusion: </strong>These findings support a multifactorial model of pediatric thyroid disease, with the TPO Arg386His variant, particularly the His/His genotype, emerging as a key genetic contributor to disease susceptibility and severity.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"486-496"},"PeriodicalIF":3.9,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13244060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147610200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond morphometry: the atrial septal defect pressure gradient as a dynamic predictor of mitral valve growth in borderline left hearts.","authors":"Han Ki Park","doi":"10.3345/cep.2026.01081","DOIUrl":"10.3345/cep.2026.01081","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"484-485"},"PeriodicalIF":3.9,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13244061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148036095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Update on pediatric allergic rhinitis: narrative review based on guideline updates.","authors":"Jung Yeon Shim","doi":"10.3345/cep.2026.00444","DOIUrl":"10.3345/cep.2026.00444","url":null,"abstract":"<p><p>Pediatric allergic rhinitis, among the most common chronic allergic diseases in children and adolescents, represents a significant public health burden in Korea and other countries. Allergic rhinitis in childhood is closely associated with asthma and should be considered a unified airway disease requiring integrated management. Recent Allergic Rhinitis and its Impact on Asthma and Korean Academy of Asthma, Allergy and Clinical Immunology guidelines advocate an evidence-based control-oriented stepwise treatment strategy that incorporates a patient-centered approach that is supported by both randomized trial data and real-world evidence. Intranasal corticosteroids (INCS) remain the first-line treatment for moderate to severe pediatric allergic rhinitis, whereas INCS plus intranasal antihistamine (INAH) combination therapy is recommended when symptom control is inadequate with INCS alone. Oral antihistamines (OAH) and INAH are recommended for children with mild disease or when rapid symptom relief is required. However, the addition of OAH to INCS therapy does not confer clinically meaningful additional benefits compared with INCS monotherapy in most patients with allergic rhinitis; therefore, routine combination therapy is not recommended. Leukotriene receptor antagonists are not recommended as first-line therapy for allergic rhinitis and are mainly used as add-on therapy in patients with concomitant asthma. In patients with predictable seasonal allergic rhinitis, INCS may be initiated 1-2 weeks before the anticipated pollen season to optimize symptom control. Pediatric management requires special consideration of age-specific clinical features, treatment adherence, safety, and caregiver education. The early diagnosis and guideline-based treatment of allergic rhinitis in children may improve their quality of life and reduce long-term respiratory morbidity.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"473-483"},"PeriodicalIF":3.9,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13244055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148057322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anthropometric trajectories of Korean children and adolescents with severe obesity.","authors":"Jeongho Han, Hakyung Lee, Dong Jun Ha, Jieun Lee, Yong Hee Hong, Hwa Young Kim, Jaehyun Kim","doi":"10.3345/cep.2025.02999","DOIUrl":"10.3345/cep.2025.02999","url":null,"abstract":"<p><strong>Background: </strong>The burden of severe pediatric obesity is increasing globally, including in South Korea, and associated with metabolic and cardiovascular complications. However, longitudinal data of Korean children with severe obesity are limited.</p><p><strong>Purpose: </strong>This study evaluated the changes in body mass index (BMI) and associated metabolic syndrome components in children and adolescents with severe obesity managed without pharmacological or surgical treatment.</p><p><strong>Methods: </strong>We retrospectively reviewed participants diagnosed with severe obesity (BMI ≥120% of the 95th percentile) before the age of 18 years at 3 medical centers in 2017-2024. Participants with more than 1 year of follow-up were included. Management consisted exclusively of lifestyle modifications, including nutritional counseling and physician-led education on physical activity, screen time, and sleep. Patients with chronic illnesses, with psychiatric disorders, or who were taking medications that affect weight were excluded. The primary outcome was the change in BMI z score from baseline to the last visit. Predictors of a change in the BMI z score were analyzed using multivariable linear regression with adjustment for age, sex, pubertal stage, baseline BMI z score, and follow-up duration and frequency.</p><p><strong>Results: </strong>Among 124 participants (mean age, 9.69±3.39 years; 61.3% boys) followed for a mean duration of 2.64±1.51 years, BMI z scores significantly decreased (from 3.68±0.75 to a mean change of -0.27±0.79, P<0.001). Younger age and male sex were associated with greater reductions in BMI z scores. However, most participants remained severely obese. Except for modest improvements in liver transaminase levels, no substantial differences were observed in other metabolic syndrome components.</p><p><strong>Conclusion: </strong>Lifestyle modification resulted in a modest BMI z score reduction; however, most participants remained severely obese with no significant improvements in most metabolic syndrome components. These findings underscore the need for early and intensive interventions for pediatric obesity.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"508-517"},"PeriodicalIF":3.9,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13244063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147692641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between impaired renal function based on decline in serum creatinine level and brain injury in neonates with hypoxic-ischemic encephalopathy.","authors":"Mélaine Boget, William Rozalen, Jeanne Fayard, Mohamed Boucekine, Diane Gillot, Isabelle Grandvuillemin, Farid Boubred","doi":"10.3345/cep.2025.02670","DOIUrl":"10.3345/cep.2025.02670","url":null,"abstract":"<p><strong>Background: </strong>Impaired renal function (IRF), defined as the rate of decline in serum creatinine levels during the week after birth, frequently affects neonates with moderate or severe hypoxic-ischemic encephalopathy (HIE). However, its clinical relevance in this vulnerable population requires further investigation.</p><p><strong>Purpose: </strong>This study aimed to evaluate the association between IRF and brain injury severity in neonates with HIE.</p><p><strong>Methods: </strong>This retrospective single-center study included neonates treated with therapeutic hypothermia for moderate or severe HIE. A multivariable logistic regression analysis evaluated the association between IRF and the combined outcomes of early death or severe brain injury (ED/SevereBI).</p><p><strong>Results: </strong>Of the 147 included neonates, 67 (45.6%) had IRF and 32 (22%) had ED/SevereBI. Those with ED/SevereBI were more likely to have a lower 5-min Apgar score (median [interquartile range]: 4 [2-5] vs. 2 [1-3], P<0.01), have a higher initial blood lactate level (mean cord blood lactate level, +34%, P<0.05), be intubated in the delivery room (50% vs. 75%, P=0.01), and have IRF (39% vs. 69%, P<0.01). After the adjustment for neonatal characteristics and perinatal asphyxia parameters, neonates with IRF had a 2- to 3-fold higher odds of ED/SevereBI than those without IRF (adjusted odds ratio [95% confidence interval]: 2.66 [1.09-6.84], P=0.03).</p><p><strong>Conclusion: </strong>In neonates treated with therapeutic hypothermia for HIE, IRF can be used as a marker of adverse outcomes. Further studies are required to evaluate its long-term prognostic value.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"437-442"},"PeriodicalIF":3.9,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147783208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.","authors":"Sun Ah Choi, Minhye Kim, Hye Jin Kim, Woo Joong Kim, Byung Chan Lim, Ji Yeon Han, Hunmin Kim, Min-Jee Kim, Mi-Sun Yum, Jiwon Lee, Jeehun Lee, Hyewon Woo, Jon Soo Kim","doi":"10.3345/cep.2025.02089","DOIUrl":"10.3345/cep.2025.02089","url":null,"abstract":"<p><strong>Background: </strong>Infantile epileptic spasms syndrome (IESS) is a severe form of infantile epilepsy with a high lifetime morbidity burden.</p><p><strong>Purpose: </strong>We aimed to assess the long-term epilepsy and neurodevelopmental outcomes based on how children with IESS have been managed over the past few decades.</p><p><strong>Methods: </strong>This retrospective multicenter study included children diagnosed with IESS between 1994 and 2021 with a minimum follow-up period of 2 years. Data on demographics, clinical features, medical history, diagnostic evaluations, and treatments used to control spasms were collected. Epilepsy and neurodevelopmental outcomes were assessed at final follow-up.</p><p><strong>Results: </strong>A total of 378 infants with IESS were included. The mean age at onset of spasms was 7.3 (range, 1-24) months and mean follow-up duration was 7.9 (range, 2-28) years. Etiologies were identified in 65.1% of cases, with acquired structural etiologies being the most prevalent (29.9%). Among the genetic and genetic-structural etiologies, tuberous sclerosis complex (n=35), Down syndrome (n=8), Miller-Dieker syndrome (n=3), and 15q duplication syndrome (n=3) were the most common. Vigabatrin was prescribed to 93.9% of the patients, suggesting that it was the mainstay of treatment. At the last follow-up, 77.8% of the children remained on antiseizure medications and 29.1% had drug-resistant epilepsy. Approximately 90% had intellectual disabilities, and half of the eligible individuals had received special education.</p><p><strong>Conclusion: </strong>The IESS imposes a substantial burden on affected children and their families and often leads to chronic epilepsy and impaired cognitive function. Consensus diagnostic and treatment guidelines tailored to the Korean clinical practice are necessary to ensure early diagnosis and timely treatment.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"386-393"},"PeriodicalIF":3.9,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.","authors":"Keun Soo Lee, Seung Hwan Oh, Ja Young Lee, Go Hun Seo, Da Eun Roh, Ji Kyoung Park, Bo Lyun Lee","doi":"10.3345/cep.2025.02775","DOIUrl":"10.3345/cep.2025.02775","url":null,"abstract":"<p><strong>Background: </strong>Neurodevelopmental disorders (NDDs) are frequently encountered in pediatric neurology clinics. However, their extensive genetic heterogeneity often limits the diagnostic yield of standard diagnostic tests, highlighting the need for comprehensive genomic approaches.</p><p><strong>Purpose: </strong>This study aimed to evaluate the diagnostic utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in children with unexplained NDDs and assess the clinical relevance of the genomic findings.</p><p><strong>Methods: </strong>We retrospectively reviewed the medical records of 64 pediatric patients with NDDs who underwent WES or WGS between March 2018 and November 2024. Clinical data, neuroimaging and electroencephalography findings, and the results of previous genetic tests were analyzed. The diagnostic yield was calculated, and clinical characteristics were compared between patients with and without a genetically confirmed diagnosis. Patients were categorized as genetically confirmed (positive) when a definitive molecular diagnosis was identified through WES or WGS and as not genetically confirmed (negative) when no causative variant was detected.</p><p><strong>Results: </strong>A definitive molecular diagnosis was achieved in 25 of 64 patients (39.1%). Diagnostic yields were 37.5% and 33.3% for WES and WGS, respectively. Most variants showed autosomal dominant (n=13) inheritance, followed by X-linked (n=9) and autosomal recessive (n=3) patterns. Novel variants accounted for 57.7% of the pathogenic or likely pathogenic variants. A positive family history was significantly associated with a higher diagnostic yield (20.0% vs. 2.6%, P=0.030), while prematurity was more common in the negative group (33.3% vs. 8.0%, P=0.032). Three WES-negative patients were later diagnosed using chromosomal microarray analysis (CMA) or repeat expansion testing.</p><p><strong>Conclusion: </strong>WES and WGS are effective diagnostic tools for pediatric NDDs. Phenotype re-evaluation and the selective use of genetic tests such as CMA and repeat expansion analysis enhance diagnostic yield.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"417-427"},"PeriodicalIF":3.9,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147783194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Classification of neurocognitive impairment in pediatric drug-resistant focal epilepsy by quantifying seizure-affected brain network abnormalities in clinical diffusion-weighted imaging connectome.","authors":"Jeong-Won Jeong, Min-Hee Lee, Yoon Ho Hwang, Michael Behen, Aimee Luat, Csaba Juhász, Eishi Asano","doi":"10.3345/cep.2025.02936","DOIUrl":"10.3345/cep.2025.02936","url":null,"abstract":"<p><strong>Background: </strong>Diverse factors including seizure onset age, seizure frequency, epilepsy duration, total number of antiseizure medications trialed are considered as seizures-related neurocognitive loads in children with drug-resistant focal epilepsy (DRE). However, their associations with the structural integrity of neurocognitive networks remain largely unknown.</p><p><strong>Purpose: </strong>This study investigates a novel diffusion-weighted imaging (DWI) connectome methodology that can extract seizure-associated structural abnormality biomarkers from clinical DWI tractography, use them to classify neurocognitive impairments prior to surgery, and unveil the relationship between epilepsy-related factors and neurocognitive impairments.</p><p><strong>Methods: </strong>Thirty-three DRE children (age: 11.8±3.3 years, 17 boys) and 29 age-matched healthy controls were enrolled to create seizure-affected networks whose edges connect epileptogenic regions to key brain regions of 6 neurocognitive networks. The deviations of local efficiency values were averaged across the seizure-affected brain regions and used as new imaging-based biomarkers quantifying the degrees of seizure-associated structural abnormalities accumulated on individual neurocognitive networks and classifying the neurocognitive impairments along with the epilepsy-related factors.</p><p><strong>Results: </strong>Effect sizes of the proposed biomarkers for differentiating DRE from healthy controls were consistently very large across various subgroups defined by lesion types, lobar locations of epileptogenic foci, seizure frequency categories, and seizure types (i.e., Cohen d value >1.8). Compared with the epilepsy-related factors, the proposed biomarkers demonstrated superior classification accuracy for identifying neurocognitive impairments in general, verbal, and nonverbal domains. When combined with the epilepsy-related factors, the classification performance further improved, achieving an accuracy range of 90%-98% in the independent test patients. The subsequent association analysis using the proposed biomarkers as seizure-associated structural abnormality indicators demonstrated that the inclusion of such imaging indicators significantly enhances the strength of associations between epilepsy factors and neurocognitive impairments.</p><p><strong>Conclusion: </strong>These findings offer strong potential for objectively identifying neurocognitive impairments in DRE children, supporting early, data-driven decisions for personalized interventions to mitigate long-term effects.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"443-454"},"PeriodicalIF":3.9,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147445057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human milk macronutrient composition and intake in relation to preterm infant growth: a cohort study.","authors":"Eakkarin Mekangkul, Chonnikant Visuthranukul, Anongnart Sirisabya, Thaninee Chitsinchayakul, Santi Punnahitananda, Sirinuch Chomtho","doi":"10.3345/cep.2025.02509","DOIUrl":"10.3345/cep.2025.02509","url":null,"abstract":"<p><strong>Background: </strong>Individualized targeted fortification based on human milk (HM) analysis reportedly achieves optimal outcomes in preterm infants. Therefore, understanding the effects of macronutrients in HM on preterm infant growth is essential.</p><p><strong>Purpose: </strong>This study aimed to determine the association between HM macronutrients and the growth of preterm infants. We also compared macronutrient intake data obtained from an HM analyzer (HMA)-based calculation with those derived from a reference-based calculation.</p><p><strong>Methods: </strong>This prospective-retrospective cohort study included infants born at 34 weeks' gestation or less. HM samples were collected weekly for up to 4 weeks or until discharge, whichever occurred first. Clinical outcomes were recorded. The macronutrient composition was analyzed using midinfrared HMA. Associations were determined using a linear regression model.</p><p><strong>Results: </strong>Of 121 preterm infants, 65 (51.2%) were male. A total of 200 HM samples were analyzed. Fat composition showed a significant positive association with weight gain velocity, with an adjusted unstandardized coefficient (aB) of 3.07 (95% confidence interval [CI], 0.22-5.93). Total protein and fat intakes were positively associated with weight gain (aB, 3.41; 95% CI, 0.83-5.98; and aB, 7.07; 95% CI, 1.73-12.42, respectively). When using the HMA-based calculation, protein intake was lower and carbohydrate intake was higher throughout the 4-week period compared with those obtained based on the reference-based calculation.</p><p><strong>Conclusion: </strong>Higher protein and fat intakes could potentially enhance weight gain in preterm infants. These findings provide further evidence to support the concept of individualized HM fortification. Our findings underscore the importance of using HMA-based methods to calculate macronutrient intakes among preterm infants.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"428-436"},"PeriodicalIF":3.9,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147783205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sarcopenia in pediatric gastroenterology and hepatology: an updated review.","authors":"Toshifumi Yodoshi","doi":"10.3345/cep.2026.00234","DOIUrl":"10.3345/cep.2026.00234","url":null,"abstract":"<p><p>Sarcopenia-the pathologic loss of skeletal muscle mass and strength-is increasingly recognized in pediatric gastroenterology and hepatology as an important determinant of clinical outcomes. Although historically linked to aging, secondary sarcopenia in children arises from chronic inflammation, malnutrition, physical inactivity, corticosteroid exposure, endocrine disturbances, and anabolic resistance. Unlike adult medicine, where diagnostic frameworks are more established, pediatric definitions remain heterogeneous because growth and puberty substantially influence body composition and muscle function. Diagnosis therefore relies on size-adjusted muscle indices, usually normalized to height squared, interpreted against age- and sex-specific reference curves. Body mass index alone is insufficient because muscle depletion and abnormal fat distribution may be present despite normal or elevated body weight, particularly in children with sarcopenic obesity and metabolic dysfunction-associated steatotic liver disease. Accumulating evidence suggests that pediatric sarcopenia is not simply a marker of frailty but a clinically meaningful predictor of adverse outcomes. In pediatric liver transplantation and cirrhosis, sarcopenia is associated with higher waitlist mortality, longer intensive care stays, and more posttransplant infections. In pediatric inflammatory bowel disease, reduced muscle mass correlates with aggressive disease, earlier biologic escalation, and increased surgical risk. This review summarizes current evidence on the epidemiology, pathophysiology, diagnosis, and management of pediatric sarcopenia in gastrointestinal and liver diseases. We discuss available diagnostic tools, including computed tomography/magnetic resonance imaging, dual-energy x-ray absorptiometry, bioelectrical impedance analysis, and grip strength, highlighting their practical advantages and limitations. We also propose a pragmatic diagnostic algoririthm and outline management strategies that extend beyond caloric supplementation, emphasizing adequate protein intake, resistance exercise, and optimization of underlying disease. Early recognition of sarcopenia may improve risk stratification, functional outcomes, and long-term prognosis in children with chronic gastrointestinal and liver diseases.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"366-383"},"PeriodicalIF":3.9,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147783413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}