Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?

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dc.authoridYUKSEL, SELCUK/0000-0001-9415-1640
dc.authoridTaşdemir, Mehmet/0000-0002-5579-6339
dc.authoridSaygili, Seha Kamil/0000-0002-2424-6959
dc.authoridTekcan Karalı, Demet/0000-0001-7013-1354
dc.authoridCanpolat, Nur/0000-0002-3420-9756
dc.authoridGIRISGEN, ILKNUR/0000-0003-2617-4466
dc.authoridDursun, Hasan/0000-0002-8817-494X
dc.authorwosidDursun, Ismail/AAW-7097-2020
dc.authorwosidYUKSEL, SELCUK/C-5473-2015
dc.authorwosidTaşdemir, Mehmet/V-7413-2017
dc.authorwosidSaygili, Seha Kamil/GLU-6742-2022
dc.authorwosidTekcan Karalı, Demet/D-5917-2017
dc.authorwosidCanpolat, Nur/V-6807-2017
dc.authorwosidGIRISGEN, ILKNUR/AAA-5113-2021
dc.contributor.authorGunay, Neslihan
dc.contributor.authorDursun, Ismail
dc.contributor.authorGokce, Ibrahim
dc.contributor.authorKara, Mehtap Akbalik
dc.contributor.authorTekcan, Demet
dc.contributor.authorCicek, Neslihan
dc.contributor.authorBayram, Meral Torun
dc.date.accessioned2024-05-19T14:39:43Z
dc.date.available2024-05-19T14:39:43Z
dc.date.issued2024
dc.departmentİstinye Üniversitesien_US
dc.description.abstractBackgroundC3 glomerulopathy (C3G) is a complement-mediated disease. Although genetic studies are not required for diagnosis, they are valuable for treatment planning and prognosis prediction. The aim of this study is to investigate the clinical phenotypes, kidney survival, and response to mycophenolate mofetil (MMF) treatment in pediatric C3G patients with and without mutations in complement-related genes.MethodsSixty pediatric C3G patients were included, divided into two groups based on complement-related gene mutations. Demographic and clinical-pathological findings, treatment modalities, and outcome data were compared, and Kaplan-Meier analysis was performed for kidney survival.ResultsOut of the 60 patients, 17 had mutations. The most common mutation was in the CFH gene (47%). The mean age at diagnosis was higher in the group with mutation (12.9 +/- 3.6 vs. 11.2 +/- 4.1 years, p = 0.039). While the patients without mutation most frequently presented with nephritic syndrome (44.2%), the mutation group was most likely to have asymptomatic urinary abnormalities (47.1%, p = 0.043). Serum parameters and histopathological characteristics were similar, but hypoalbuminemia was more common in patients without mutation. During 45-month follow-up,10 patients progressed to chronic kidney disease stage 5 (CKD5), with 4 having genetic mutation. The time to develop CKD5 was longer in the mutation group but not significant. MMF treatment had no effect on progression in either group.ConclusionsThis study is the largest pediatric C3G study examining the relationship between genotype and phenotype. We showed that the mutation group often presented with asymptomatic urinary abnormalities, was diagnosed relatively late but was not different from the without mutation group in terms of MMF treatment response and kidney survival.Graphical abstractA higher resolution version of the Graphical abstract is available as Supplementary informationen_US
dc.identifier.doi10.1007/s00467-023-06231-2
dc.identifier.endpage1446en_US
dc.identifier.issn0931-041X
dc.identifier.issn1432-198X
dc.identifier.issue5en_US
dc.identifier.pmid38041748en_US
dc.identifier.scopus2-s2.0-85178223293en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1435en_US
dc.identifier.urihttps://doi.org10.1007/s00467-023-06231-2
dc.identifier.urihttps://hdl.handle.net/20.500.12713/4836
dc.identifier.volume39en_US
dc.identifier.wosWOS:001123778900002en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofPediatric Nephrologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240519_kaen_US
dc.subjectC3 Glomerulopathyen_US
dc.subjectC3 Glomerulonephritisen_US
dc.subjectChildrenen_US
dc.subjectComplement Systemen_US
dc.subjectGeneticen_US
dc.subjectRare Diseaseen_US
dc.titleComplement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?en_US
dc.typeArticleen_US

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