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

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dc.contributor.authorGÖKCE, İBRAHİM
dc.contributor.authorÇİÇEK DENİZ, NESLİHAN
dc.contributor.authorALPAY, HARİKA
dc.contributor.authorsGünay N., DURSUN İ., GÖKCE İ., Akbalık Kara M., Tekcan D., ÇİÇEK N., TORUN BAYRAM M., KOYUN M., Dinçel N., Dursun H., et al.
dc.date.accessioned2023-12-11T08:05:52Z
dc.date.available2023-12-11T08:05:52Z
dc.date.issued2023-01-01
dc.description.abstractBackground: C3 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. Methods: Sixty 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. Results: Out 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. Conclusions: This 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 abstract: [Figure not available: see fulltext.]
dc.identifier.citationGünay N., DURSUN İ., GÖKCE İ., Akbalık Kara M., Tekcan D., ÇİÇEK N., TORUN BAYRAM M., KOYUN M., Dinçel N., Dursun H., et al., "Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?", Pediatric Nephrology, 2023
dc.identifier.doi10.1007/s00467-023-06231-2
dc.identifier.issn0931-041X
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178223293&origin=inward
dc.identifier.urihttps://hdl.handle.net/11424/295504
dc.language.isoeng
dc.relation.ispartofPediatric Nephrology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectİç Hastalıkları
dc.subjectNefroloji
dc.subjectSağlık Bilimleri
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectChild Health and Diseases
dc.subjectInternal Diseases
dc.subjectNephrology
dc.subjectHealth Sciences
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectÜROLOJİ VE NEFROLOJİ
dc.subjectPEDİATRİ
dc.subjectClinical Medicine (MED)
dc.subjectCLINICAL MEDICINE
dc.subjectUROLOGY & NEPHROLOGY
dc.subjectPEDIATRICS
dc.subjectPediatri, Perinatoloji ve Çocuk Sağlığı
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectC3 glomerulonephritis
dc.subjectC3 glomerulopathy
dc.subjectChildren
dc.subjectComplement system
dc.subjectGenetic
dc.subjectRare disease
dc.titleComplement gene mutations in children with C3 glomerulopathy: Do they affect the response to mycophenolate mofetil
dc.typearticle
dspace.entity.typePublication
local.avesis.idebb74ed5-2a31-450d-adea-45050a74a240
local.indexed.atPUBMED
local.indexed.atSCOPUS
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relation.isAuthorOfPublication00158ab2-6abe-4f34-9358-5808e1da7d68
relation.isAuthorOfPublication102b331c-4c62-4795-880d-234f6b72fa6a
relation.isAuthorOfPublication.latestForDiscoveryee5d20d0-d1cb-4dfa-9d4d-6366f8806a00

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