Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/56293
Title: Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?
Authors: Günay, Neslihan
Dursun, İsmail
Gökçe, İbrahim
Akbalık Kara, Mehtap
Tekcan, Demet
Çicek, Neslihan
Torun Bayram, Meral
Koyun, Mustafa
Dinçel, Nida
Dursun, Hasan
Saygılı, Seha
Yürük Yıldırım, Zeynep Nagehan
Yüksel, Selçuk
Dönmez, Osman
Yel, Sibel
Demircioğlu Kılıç, Beltinge
Aydoğ, Özlem
Atmış, Bahriye
Çaltık Yılmaz, Aysun
Bakkaloğlu, Sevcan A.
Aytaç, Mehmet Baha
Taşdemir, Mehmet
Kasap Demir, Belde
Soylu, Alper
Çomak, Elif
Kantar Özşahin, Aslı
Kaçar, Alper
Canpolat, Nur
Yılmaz, Alev
Girişgen, İlknur
Akkoyunlu, Kadirye Betül
Alpay, Harika
Poyrazoğlu, Hakan M.
Keywords: C3 glomerulopathy
C3 glomerulonephritis
Children
Complement system
Genetic
Rare disease
Dense Deposit Disease
Glomerulonephritis
Variants
Outcomes
Publisher: Springer
Abstract: BackgroundC3 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 information
URI: https://doi.org/10.1007/s00467-023-06231-2
https://hdl.handle.net/11499/56293
ISSN: 0931-041X
1432-198X
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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