Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/56293
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dc.contributor.authorGünay, Neslihan-
dc.contributor.authorDursun, İsmail-
dc.contributor.authorGökçe, İbrahim-
dc.contributor.authorAkbalık Kara, Mehtap-
dc.contributor.authorTekcan, Demet-
dc.contributor.authorÇicek, Neslihan-
dc.contributor.authorTorun Bayram, Meral-
dc.contributor.authorKoyun, Mustafa-
dc.contributor.authorDinçel, Nida-
dc.contributor.authorDursun, Hasan-
dc.contributor.authorSaygılı, Seha-
dc.contributor.authorYürük Yıldırım, Zeynep Nagehan-
dc.contributor.authorYüksel, Selçuk-
dc.contributor.authorDönmez, Osman-
dc.contributor.authorYel, Sibel-
dc.contributor.authorDemircioğlu Kılıç, Beltinge-
dc.contributor.authorAydoğ, Özlem-
dc.contributor.authorAtmış, Bahriye-
dc.contributor.authorÇaltık Yılmaz, Aysun-
dc.contributor.authorBakkaloğlu, Sevcan A.-
dc.contributor.authorAytaç, Mehmet Baha-
dc.contributor.authorTaşdemir, Mehmet-
dc.contributor.authorKasap Demir, Belde-
dc.contributor.authorSoylu, Alper-
dc.contributor.authorÇomak, Elif-
dc.contributor.authorKantar Özşahin, Aslı-
dc.contributor.authorKaçar, Alper-
dc.contributor.authorCanpolat, Nur-
dc.contributor.authorYılmaz, Alev-
dc.contributor.authorGirişgen, İlknur-
dc.contributor.authorAkkoyunlu, Kadirye Betül-
dc.contributor.authorAlpay, Harika-
dc.contributor.authorPoyrazoğlu, Hakan M.-
dc.date.accessioned2024-01-21T19:50:29Z-
dc.date.available2024-01-21T19:50:29Z-
dc.date.issued2023-
dc.identifier.issn0931-041X-
dc.identifier.issn1432-198X-
dc.identifier.urihttps://doi.org/10.1007/s00467-023-06231-2-
dc.identifier.urihttps://hdl.handle.net/11499/56293-
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.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofPediatric Nephrologyen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectC3 glomerulopathyen_US
dc.subjectC3 glomerulonephritisen_US
dc.subjectChildrenen_US
dc.subjectComplement systemen_US
dc.subjectGeneticen_US
dc.subjectRare diseaseen_US
dc.subjectDense Deposit Diseaseen_US
dc.subjectGlomerulonephritisen_US
dc.subjectVariantsen_US
dc.subjectOutcomesen_US
dc.titleComplement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?en_US
dc.typeArticleen_US
dc.typeArticle; Early Accessen_US
dc.departmentPamukkale Universityen_US
dc.authoridDursun, Hasan/0000-0002-8817-494X-
dc.authoridCicek, neslihan/0000-0002-5859-4177-
dc.authoridDursun, Ismail/0000-0002-0191-4344-
dc.authoridkoyun, mustafa/0000-0002-6707-1001-
dc.authoridGunay, Neslihan/0000-0002-0995-8501-
dc.identifier.doi10.1007/s00467-023-06231-2-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.authorscopusid57191891522-
dc.authorscopusid16021105100-
dc.authorscopusid16238883200-
dc.authorscopusid57192988623-
dc.authorscopusid55340326300-
dc.authorscopusid57195075255-
dc.authorscopusid52663196300-
dc.authorwosidDursun, Hasan/AAB-7105-2020-
dc.identifier.pmid38041748en_US
dc.identifier.scopus2-s2.0-85178223293en_US
dc.identifier.wosWOS:001123778900002en_US
dc.institutionauthor-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeArticle-
item.openairetypeArticle; Early Access-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.cerifentitytypePublications-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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