{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:50:50Z","timestamp":1787028650157,"version":"build-2736575974"},"reference-count":26,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2024,10,28]],"date-time":"2024-10-28T00:00:00Z","timestamp":1730073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: This study aims to evaluate the efficacy and outcomes of renal replacement therapy (RRT) in pediatric patients with metabolic diseases, specifically focusing on the impact of hemodialysis (HD) and peritoneal dialysis (PD) on clinical parameters, toxin reduction, and long-term survival. Methods: This retrospective study included 10 pediatric patients (eight females and two males) treated at a pediatric nephrology department between 2020 and 2023. Patients diagnosed with metabolic disorders, including maple syrup urine disease (MSUD), methylmalonic acidemia (MMA), and glycogen storage disease (GSD), underwent RRT. Clinical data, demographic information, and biochemical parameters were collected and analyzed. Results: Among the patients, 50% were diagnosed with MSUD, 30% with MMA, and 20% with GSD. RRT, including HD and PD, was administered to manage acute metabolic crises. HD was particularly effective in rapidly reducing toxic metabolite levels. Patients treated with HD showed significant reductions in leucine and ammonium levels, with median reductions of 94.5% and 86%, respectively. Overall, 60% of the patients demonstrated long-term survival, highlighting the critical role of RRT in managing metabolic crises. In conclusion, RRT, including HD and PD, is crucial in managing pediatric metabolic disorders by effectively reducing toxic metabolite levels and improving clinical outcomes. Conclusions: The results of this study are consistent with previous research, highlighting the critical role of RRT in the acute management of metabolic crises and supporting its adoption as a standard treatment method.<\/jats:p>","DOI":"10.3390\/jcm13216452","type":"journal-article","created":{"date-parts":[[2024,10,28]],"date-time":"2024-10-28T07:47:18Z","timestamp":1730101638000},"page":"6452","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Efficacy and Outcomes of Renal Replacement Therapy in Pediatric Metabolic Disorders"],"prefix":"10.3390","volume":"13","author":[{"given":"H\u00fclya G\u00f6zde","family":"\u00d6nal","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology, Faculty of Medicine, Ondokuz May\u0131s University, 55270 Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0686-9714","authenticated-orcid":false,"given":"H\u00fclya","family":"Nal\u00e7ac\u0131o\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Faculty of Medicine, Ondokuz May\u0131s University, 55270 Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3144-2915","authenticated-orcid":false,"given":"I\u015f\u0131l","family":"\u00d6zer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Faculty of Medicine, Ondokuz May\u0131s University, 55270 Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Demet Tekcan","family":"Karal\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Faculty of Medicine, Ondokuz May\u0131s University, 55270 Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/B978-0-444-64029-1.00022-9","article-title":"Inborn errors of metabolism","volume":"162","author":"Ferreira","year":"2019","journal-title":"Handb. Clin. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.pcl.2017.11.002","article-title":"Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management","volume":"65","author":"Saudubray","year":"2018","journal-title":"Pediatr. Clin. N. Am."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1007\/s12098-021-03759-9","article-title":"Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates","volume":"88","author":"Balakrishnan","year":"2021","journal-title":"Indian J. Pediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1038\/s41591-020-0966-5","article-title":"The role of exome sequencing in newborn screening for inborn errors of metabolism","volume":"26","author":"Adhikari","year":"2020","journal-title":"Nat. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e15082","DOI":"10.1111\/ped.15082","article-title":"Altered immune response in organic acidemia","volume":"64","author":"Altun","year":"2022","journal-title":"Pediatr. Int."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1542\/pir.2020-000562","article-title":"Organic Acidemias","volume":"43","author":"Guilder","year":"2022","journal-title":"Pediatr. Rev."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"57","DOI":"10.2147\/TACG.S125962","article-title":"Maple syrup urine disease: Mechanisms and management","volume":"10","author":"Blackburn","year":"2017","journal-title":"Appl. Clin. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/jdn.10283","article-title":"Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation","volume":"83","author":"Deon","year":"2023","journal-title":"Int. J. Dev. Neurosci."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1515\/jpem-2023-0127","article-title":"Systematic literature review of the epidemiology of glycogen storage disease type 1a","volume":"36","author":"Zelei","year":"2023","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/jimd.12442","article-title":"100\u2009years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021","volume":"45","author":"Ramoser","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1053\/j.ajkd.2023.10.012","article-title":"Recent Advances in Kidney Replacement Therapy in Infants: A Review","volume":"83","author":"Slagle","year":"2024","journal-title":"Am. J. Kidney Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1111\/apa.15539","article-title":"Review: Neonatal dialysis is technically feasible but ethical and global issues need to be addressed","volume":"110","author":"Ranchin","year":"2021","journal-title":"Acta Paediatr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ymgme.2020.01.006","article-title":"Branched-chain \u03b1-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes","volume":"129","author":"Strauss","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"e32174","DOI":"10.1097\/MD.0000000000032174","article-title":"Neonatal maple syrup urine disease case report and literature review","volume":"101","author":"Liu","year":"2022","journal-title":"Medicine"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"117483","DOI":"10.1016\/j.cca.2023.117483","article-title":"Newborn screening of maple syrup urine disease and the effect of early diagnosis","volume":"548","author":"Chen","year":"2023","journal-title":"Clin. Chim. Acta"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1007\/s12098-020-03344-6","article-title":"Continuous Venovenous Hemodiafilteration for Extremely High Ammonia Levels in Methyl Malonic Acidemia","volume":"88","author":"Ganesh","year":"2021","journal-title":"Indian J. Pediatr."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.toxlet.2018.06.1070","article-title":"Ammonia role in glial dysfunction in methylmalonic acidemia","volume":"295","author":"Gabbi","year":"2018","journal-title":"Toxicol. Lett."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Siegel, C., Arnon, R., Florman, S., Bucuvalas, J., and Oishi, K. (2020). Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia. Nutrients, 12.","DOI":"10.3390\/nu12102976"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/s41572-023-00456-z","article-title":"Glycogen storage diseases","volume":"9","author":"Hannah","year":"2023","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"3932","DOI":"10.3748\/wjg.v29.i25.3932","article-title":"Glycogen storage diseases: An update","volume":"29","year":"2023","journal-title":"World J. Gastroenterol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1097\/MOP.0000000000001158","article-title":"Update on glycogen storage disease: Primary hepatic involvement","volume":"34","author":"Wright","year":"2022","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1111\/nep.13409","article-title":"Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism","volume":"23","author":"Porta","year":"2018","journal-title":"Nephrology"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1007\/s00467-022-05507-3","article-title":"Acute hemodialysis therapy in neonates with inborn errors of metabolism","volume":"37","author":"Eisenstein","year":"2022","journal-title":"Pediatr. Nephrol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1007\/s00431-019-03361-4","article-title":"Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism","volume":"178","author":"Celik","year":"2019","journal-title":"Eur. J. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.pedneo.2017.04.004","article-title":"The impact of continuous renal replacement therapy for metabolic disorders in infants","volume":"59","author":"Aygun","year":"2018","journal-title":"Pediatr. Neonatol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1093\/ndt\/gfp595","article-title":"Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism","volume":"25","author":"Arbeiter","year":"2010","journal-title":"Nephrol. Dial. Transplant."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/21\/6452\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:22:09Z","timestamp":1760113329000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/21\/6452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,28]]},"references-count":26,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2024,11]]}},"alternative-id":["jcm13216452"],"URL":"https:\/\/doi.org\/10.3390\/jcm13216452","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,28]]}}}