Global Pediatric HealthPub Date : 2024-02-10eCollection Date: 2024-01-01DOI: 10.1177/2333794X241231133
Zilac Espitaleta, Alex Domínguez-Vargas, Johanna Villamizar-Martínez, Martha Carrascal-Guzmán, Gustavo Guerrero-Tinoco, Diana Silva-Díaz, Richard Baquero, Claudia Pinto-Bernal, Luz González-Chaparro, Luisa Rojas-Rosas, Pilar Amado-Niño, Mariángel Castillo-Arteaga, Yeferson Alvarez-Gómez, Laura Arguello-Muñoz, William Morales-Camacho, Oscar León-Guerra, Eduardo Egea, Ricardo Galeano-Rodríguez, Ana Quintero-Gómez, Gustavo Aroca-Martínez, Carlos G Musso
{"title":"Atypical Hemolytic Uremic Syndrome: A Nationwide Colombian Pediatric Series.","authors":"Zilac Espitaleta, Alex Domínguez-Vargas, Johanna Villamizar-Martínez, Martha Carrascal-Guzmán, Gustavo Guerrero-Tinoco, Diana Silva-Díaz, Richard Baquero, Claudia Pinto-Bernal, Luz González-Chaparro, Luisa Rojas-Rosas, Pilar Amado-Niño, Mariángel Castillo-Arteaga, Yeferson Alvarez-Gómez, Laura Arguello-Muñoz, William Morales-Camacho, Oscar León-Guerra, Eduardo Egea, Ricardo Galeano-Rodríguez, Ana Quintero-Gómez, Gustavo Aroca-Martínez, Carlos G Musso","doi":"10.1177/2333794X241231133","DOIUrl":"https://doi.org/10.1177/2333794X241231133","url":null,"abstract":"<p><p><i>Objectives.</i> Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated kidney disease with genetic predisposition and represents up to 10% of pediatric hemolytic uremic syndrome (HUS) cases. Few studies have evaluated aHUS in Latin American population. We studied a Colombian pediatric cohort to delineate disease presentation and outcomes. <i>Methods.</i> A multicenter cohort of 27 Colombian children with aHUS were included. Patients were grouped by age at onset. Clinical features were compared using analysis of variance (ANOVA) and Fisher exact tests. Renal biopsy was performed on 6 patients who were suspected of having other renal diseases before aHUS diagnosis. <i>Results.</i> Most patients were male (70%). The onset of aHUS occurred frequently before age 4 years (60%) and followed gastroenteritis as the main triggering event (52%). Age groups showed comparable clinical presentation, disease severity, treatment, and outcomes. Pulmonary involvement (67%) was the main extrarenal manifestation, particularly in the 1 to 7 age group (<i>P</i> = .01). Renal biopsies were as follows: 3 had membranoproliferative glomerulonephritis (MPGN) type I, one MPGN type III, one C3-glomerulonephritis, and one rapidly progressive GN. Genetic screening was available in 6 patients and identified 2x<i>CFHR5</i>, <i>2xMCP</i>, 1x<i>ADAMTS13/THBD</i>, and 1x<i>DGKE</i> mutations. A total of 15 relapses were seen, of which 8 (72%) occurred in the 1 to 7 age group. The renal outcome was not significantly different regardless of age group. <i>Conclusion.</i> In our cohort, we observed a relatively high frequency of extrarenal involvement at first presentation represented by pulmonary manifestations. The renal prognosis at initial presentation was worse than in previous reports.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10859067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722250","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}
Global Pediatric HealthPub Date : 2024-02-07eCollection Date: 2024-01-01DOI: 10.1177/2333794X241230873
Yazeed Alayed, Wesam Alghamdi, Rafah Alyousef
{"title":"Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.","authors":"Yazeed Alayed, Wesam Alghamdi, Rafah Alyousef","doi":"10.1177/2333794X241230873","DOIUrl":"10.1177/2333794X241230873","url":null,"abstract":"<p><p>Carbonic anhydrase II deficiency is an extremely rare inborn error of metabolism that constitutes a triad osteopetrosis, renal tubular acidosis and intracerebral calcification. Unlike other subtypes of osteopetrosis, the presence of developmental delay and relative infrequency of skeletal fractures may not be a typical signs of symptoms indolent trajectory. This case report demonstrates a 11-year-old boy who had a bilateral midshaft tibial fracture despite low mechanism of injury. He was found to have severe respiratory distress with hypokalemia shortly after arriving to the emergency department venous blood gas (VBG) showed moderate metabolic acidosis. Potassium was corrected but he persistently had low potassium level despite frequent corrections. He was then started on sodium bicarbonate boluses. Whole exome sequencing (WES) was sent, and result was consistent with autosomal recessive osteopetrosis type III with renal tubular acidosis (RTA) evident by pathologic variant on <i>CA2</i> gene confirming the diagnosis of carbonic anhydrase II (CA II) deficiency consistent with the unique Arabic mutation. Conversely, low mechanism of fracture injury in the context of severe form of fracture type should raise the concern of (CA II) deficiency especially in a pediatric patient who show no signs of developmental of cognitive delay.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10848787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139702238","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}
Global Pediatric HealthPub Date : 2024-01-31eCollection Date: 2024-01-01DOI: 10.1177/2333794X231224999
Ali J Bazzi, Zahur Fatima Sallman, Alyssa M Greenwell, Alexandra T Manolis, Rasha Khanafer, Sara Haidar-Elatrache
{"title":"Prolonged School Closure and Pediatric Respiratory Hospitalization: The Silver Lining of the COVID-19 Pandemic.","authors":"Ali J Bazzi, Zahur Fatima Sallman, Alyssa M Greenwell, Alexandra T Manolis, Rasha Khanafer, Sara Haidar-Elatrache","doi":"10.1177/2333794X231224999","DOIUrl":"https://doi.org/10.1177/2333794X231224999","url":null,"abstract":"<p><p><i>Objective.</i> This is a single-center retrospective cohort study that aimed to quantitatively assess the association between prolonged school closure (>2 weeks) and pediatric respiratory hospitalization during the COVID-19 pandemic. <i>Methods.</i> Subjects included 1243 patients presenting to Children's Hospital of Michigan during the winters of 2019, 2020, and 2021. The primary outcome measures were total respiratory hospitalizations and respiratory diagnoses. <i>Results.</i> Data was analyzed using a 2-sample <i>z</i>-test for proportions. We found that pediatric patients in the setting of prolonged school closure had significantly fewer hospitalizations in 2020 compared to 2019 (9% vs 47%; <i>P</i> < .001) and 2021 (9% vs 45%; <i>P</i> < .001). There were decreases in bronchiolitis, asthma/reactive airway disease (RAD), and pneumonia hospitalizations compared to 2019 and 2021. <i>Conclusions.</i> Our study showed that during prolonged school closure, there was a significant decrease in pediatric respiratory hospitalization. As such, it should be considered when creating a pandemic response strategy.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10832408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139674041","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":"Determinants of Neonatal Sepsis among Neonates Admitted in a Neonatal Intensive Care Unit at Injibara General Hospital, Awi Zone, and Amhara Regional State, Ethiopia.","authors":"Ephrem Yeshambel, Addisu Alehegn Alemu, Bewket Yeserah Aynalem, Yewbmirt Sharew Bayile","doi":"10.1177/2333794X241228062","DOIUrl":"https://doi.org/10.1177/2333794X241228062","url":null,"abstract":"<p><p><i>Introduction.</i> Neonatal sepsis is the primary cause of increased newborn morbidity and mortality worldwide, particularly in developing countries. In Ethiopia, the factors of neonatal sepsis are not well understood. Therefore, the purpose of this study was to determine the factors associated with neonatal sepsis in the study area. <i>Methods.</i> A case-control study design was conducted among 60 cases and 120 controls. Variables with <i>P</i> ≤ .25 in the bivariate analysis were entered into multivariable logistic regression, and statistical significance was declared at <i>P</i> < .05. <i>Result.</i> Birth weight <2500-g (AOR = 4.05 [1.44, 11.36], number of ANC visits <3 (AOR = 4.49 [1.70, 11.86], duration of rupture of membrane ≥18 hours (AOR = 4.42; [2.02, 9.66], first minute APGAR score <7 (AOR = 3.09 [1.10, 8.70], birth at a health-center (AOR = 0.22 [0.08, 0.60]) and instrumental delivery (AOR = 0.30 [0.10, 0.88]<b>)</b> were factors associated with neonatal sepsis. <i>Conclusion.</i> Neonatal sepsis was associated with different factors like prolonged membrane rupture, birth weight, and antenatal care visits.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10832415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139674040","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}
Global Pediatric HealthPub Date : 2024-01-31eCollection Date: 2024-01-01DOI: 10.1177/2333794X231226071
Addisu Dabi Wake
{"title":"Survival Status and Predictors of Tuberculosis Development Among Under 5 Children Admitted With Severe Acute Malnutrition in Ethiopia: A Retrospective Cohort Study.","authors":"Addisu Dabi Wake","doi":"10.1177/2333794X231226071","DOIUrl":"https://doi.org/10.1177/2333794X231226071","url":null,"abstract":"<p><p><i>Introduction</i>. The burden of severe acute malnutrition (SAM) remains unacceptably high worldwide. The burden of Tuberculosis (TB) co-occurring with SAM in under 5 children is a significant focus for the improvement of child health. The co-existence of these diseases are significantly enhancing the associated morbidity, mortality, and hospitalization costs among this population. <i>Objective</i>. To determine survival status and predictors of TB development in under 5 children with SAM in Asella Referral and Teaching Hospital, Ethiopia. <i>Methods</i>. A retrospective cohort study was done in 247 under 5 children with SAM between January 01/2018 and December 31/2022. Systematic sampling technique was used to select the study participants. Data extraction format was used to collect data from the patient's medical chart. EpiData version 4.6.0.6 was used for data entry and exported to STATA version 14.2 for statistical analysis. <i>Result</i>. This study includes 247 under 5 children with SAM with a response rate of 100%. Regarding to the survival status; 24(17%) of under 5 children with SAM have developed the events (TB) and the rest of them, 205(83%) were censored. The incidence density rate (IDR) of TB in under 5 children with SAM was 45.51 per 100 (95% CI: 33.63, 61.58) children-months observation. The cumulative incidence of TB was 17% (95% CI: 12.79, 22.25). Multivariable Cox proportional hazard analysis revealed that: having a history of TB contact (AHR = 5.56, 95% CI: 2.77, 11.15, <i>P</i>-value = .000), having a history of bottle feeding (AHR = 4.95, 95%CI: 1.08, 22.77, <i>P</i>-value = .040), did not take F100 (AHR = 1.71, 95% CI: 1.12, 7.25, <i>P</i>-value = .00) were statistically significant predictors of TB development. <i>Conclusion</i>. This study shows that the IDR of TB was high. Having a history of TB contact, history of bottle feeding, and not taking F100 were significant predictors of TB development. It is vital to address these predictors to prevent the development of TB in this population. Moreover, early screening of TB in these children should get high emphasize.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10832439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139671551","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}
Global Pediatric HealthPub Date : 2024-01-25eCollection Date: 2024-01-01DOI: 10.1177/2333794X231219598
Alastair Fung, Julie Farmer, Cornelia M Borkhoff
{"title":"Young Infants Clinical Signs Study 8-sign Algorithm for Identification of Sick Infants Adapted for Routine Home Visits: A Systematic Review and Critical Appraisal of its Measurement Properties.","authors":"Alastair Fung, Julie Farmer, Cornelia M Borkhoff","doi":"10.1177/2333794X231219598","DOIUrl":"10.1177/2333794X231219598","url":null,"abstract":"<p><p><i>Objective.</i> The 8-sign algorithm adapted from the Young Infants Clinical Signs Study (YICSS) is widely used to identify sick infants during home visits (YICSS-home algorithm). We aimed to critically appraise the development and evidence of measurement properties, including sensibility, reliability, and validity, of the YICSS-home algorithm. <i>Methods.</i> Relevant studies were identified through a systematic literature search. <i>Results.</i> The YICSS-home algorithm has good sensibility. The algorithm demonstrated at least moderate inter-rater reliability and sensitivity ranging from 69% to 80%. However, the algorithm was developed among sick infants brought for care to a health facility and not initially developed for use by community health workers (CHWs) during home visits. Some important risk factors were omitted at item generation. Inter-CHW reliability and construct validity have not been estimated. <i>Conclusion.</i> Future research should build on the strengths of the YICSS-home algorithm and address its limitations to develop a new algorithm with improved predictive accuracy.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10812101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139570296","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}
Global Pediatric HealthPub Date : 2024-01-23eCollection Date: 2024-01-01DOI: 10.1177/2333794X241227704
Fatima Chait, Nourrelhouda Bahlouli, Khadija Laasri, Kaouthar Sfar, Najat Lamalmi, Nazik Allali, Siham El Haddad, Latifa Chat
{"title":"A Dental Extraction Revealing a Multisystem Burkitt's Lymphoma: A Case Report.","authors":"Fatima Chait, Nourrelhouda Bahlouli, Khadija Laasri, Kaouthar Sfar, Najat Lamalmi, Nazik Allali, Siham El Haddad, Latifa Chat","doi":"10.1177/2333794X241227704","DOIUrl":"10.1177/2333794X241227704","url":null,"abstract":"<p><p>Burkitt's lymphoma is rare but highly aggressive and very fast-growing B-cell non-Hodgkin's lymphoma (NHL). It can affect any organ such as the central nervous system, jaw, intestines, kidneys, ovaries, and other organs. It results from the malignant evolution and proliferation of B-type lymphoid cells. The diagnosis is based on a biopsy of a tumor mass or bone marrow aspiration revealing the presence of tumor cells. We report the case of a 7 year old child who was referred for a gingival swelling evolving since 1 month following a dental extraction. Imaging and anatomopathological examination after biopsy concludes to a multi systemic Burkitt's lymphoma. A chemotherapy was immediately started with spectacular complete remission.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10807309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139545021","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}
Global Pediatric HealthPub Date : 2024-01-23eCollection Date: 2024-01-01DOI: 10.1177/2333794X231226057
Tomasz Wawrzoniak, Justyna Romańska
{"title":"Effect of Serial Clinical Observation Complemented by Point-of-Care Blood Culture Volume Verification on Antibiotic Exposure in Newborns.","authors":"Tomasz Wawrzoniak, Justyna Romańska","doi":"10.1177/2333794X231226057","DOIUrl":"10.1177/2333794X231226057","url":null,"abstract":"<p><p><i>Objective.</i> This study evaluated the effects of serial clinical observation strategy complemented by point-of-care verification of blood culture volume in managing term and near-term newborns at risk for early-onset sepsis. <i>Methods.</i> We used a \"before-and-after\" approach. Infants born at ≥35 0/7 weeks' gestation were eligible. Our strategy was based on serial clinical observation complemented with point-of-care verification of blood culture volume. Two separate 12-month periods were analyzed. The number of infants exposed to antibiotics started during the first 3 days of life was compared before and after introducing the strategy. <i>Results.</i> During the post-intervention period, 0.6% of infants received antibiotic therapy, compared to 4.1% during the pre-intervention period (<i>P</i> < .001; relative risk [RR]: 0.15; 95% CI: 0.08-0.28). <i>Conclusion.</i> Serial clinical observation complemented with verification of blood culture volume might reduce antibiotic utilization in newborns in the early postnatal period.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10807344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139545050","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":"Assessment of Research Ethics Knowledge of Pediatricians.","authors":"Kamran Salayev, Ulviyya Aslanova, Narmin Guliyeva, Geray Geraybeyli, Kerim Munir","doi":"10.1177/2333794X231224989","DOIUrl":"10.1177/2333794X231224989","url":null,"abstract":"<p><p><i>Objectives.</i> To assess knowledge of ethics knowledge among child healthcare professionals. <i>Methods.</i> We translated the Test of Residents' Ethics Knowledge for Pediatrics (TREK-P) in Azeri and administered it to: (i) third-year medical students (n = 21), (ii) pediatrics residents (n = 24), (iii) practicing pediatricians (n = 21), and (iv) fellows (n = 9) who participated in a Fogarty International Center/National Institute of Health (Fogarty/NIH) R25 research ethics education program. The difference in the TREK-P score between the groups and the correlation between the TREK-P score and other factors were evaluated. <i>Results.</i> The fellows scored significantly higher than the other groups (<i>P</i> = .006). There was no significant difference between the other 3 groups. Within a joined group of pediatricians and fellows, previous training on ethics was the only factor that correlated with the higher TREK-P scores (<i>P</i> < .05). <i>Conclusions.</i> The higher scores in fellows support the effectiveness of postgraduate Fogarty/NIH training programs in research ethics.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10807348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139545024","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}
Global Pediatric HealthPub Date : 2024-01-19eCollection Date: 2024-01-01DOI: 10.1177/2333794X231221935
Ding Juan-Juan, Wang Jia, Liu Li-Li, Wang Si, Wang Xiao-Wen, Luan Jiang-Wei, Ke Li-Qin, Sun Jie, Zhao Pei-Wei
{"title":"Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.","authors":"Ding Juan-Juan, Wang Jia, Liu Li-Li, Wang Si, Wang Xiao-Wen, Luan Jiang-Wei, Ke Li-Qin, Sun Jie, Zhao Pei-Wei","doi":"10.1177/2333794X231221935","DOIUrl":"10.1177/2333794X231221935","url":null,"abstract":"<p><p><i>Background</i>. Characteristics of X-linked Alport syndrome (XLAS) in a cohort of Chinese children. <i>Methods</i>. This work is a retrospective study covering the clinical information, pathological data, and gene sequencing results of 32 cases with XLAS from 2011 to 2022. <i>Results</i>. Among these 32 patients, the youngest age of onset was 3 months. Renal biopsy was performed on 29 children. The lamellated glomerular basement membrane was observed in 19 children using electron microscopy (65.5%). Of the 26 samples tested, 73.1% were found to be negative for collagen-a5 under immunohistochemical staining, showing clinical significance. Next-generation sequencing (NGS) detected 27 pathogenic gene mutations. A total of 15.4% of patients carried de novo mutations. <i>Conclusions</i>. The boys with XLAS showed more typical pathological performance than the girls. Patients with severe mutation were more likely to have proteinuria and hearing impairment. Renal pathology combined with NSG is an important means of diagnosis of AS.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10799596/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512371","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}