ESPN 54th Annual Meeting

ESPN 2022


 
Are the complement gene mutations affecting clinical outcomes in children with C3 glomerulopathy ?
NESLIHAN GUNAY 1 ISMAIL DURSUN 2 IBRAHIM GOKCE 3 MEHTAP AKBALIK KARA 4 DEMET TEKCAN 5 NESLIHAN CICEK 3 MERAL TORUN BAYRAM 6 MUSTAFA KOYUN 7 NIDA DINCEL 8 HASAN DURSUN 9 SEHA SAYGILI 10 ZEYNEP NAGEHAN YURUK YILDIRIM 11 SELCUK YUKSEL 12 OSMAN DONMEZ 13 SIBEL YEL 2 BELTINGE DEMIRCIOGLU 4 OZLEM AYDOG 5 BAHRIYE ATMIS 14 AYSUN CALTIK YILMAZ 15 SEVCAN BAKKALOGLU 16 MEHMET BAHA AYTAC 17 MEHMET TASDEMIR 18 BELDE KASAP DEMIR 19 ALPER SOYLU 6 ELIF COMAK 7 ASLI KANTAR OZSAHIN 8 ALPER KACAR 9 NUR CANPOLAT 10 ALEV YILMAZ 11 ILKNUR GIRISGEN 12 KADRIYE BETUL AKKOYUNLU 13 HARIKA ALPAY 3 MUAMMER HAKAN POYRAZOGLU 2

1- KAYSERI CITY TRAINING AND RESEARCH HOSPITAL, PEDIATRIC NEPHROLOGY CLINIC, KAYSERI/TURKEY
2- ERCIYES UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, KAYSERI /TURKEY
3- MARMARA UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, İSTANBUL/TURKEY
4- GAZIANTEP UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, GAZIANTEP/TURKEY
5- ONDOKUZ MAYIS UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, SAMSUN/TURKEY
6- DOKUZ EYLÜL UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, İZMIR/TURKEY
7- AKDENIZ UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, ANTALYA/TURKEY
8- BEHÇET UZ PEDIATRIC DISEASES TRAINING AND RESEARCH HOSPITAL, PEDIATRIC NEPHROLOGY CLINIC, İZMIR/TURKEY
9- DR. CEMIL TAŞCIOĞLU HOSPITAL PEDIATRIC NEPHROLOGY CLINIC, İSTANBUL/TURKEY
10- CERRAHPAŞA UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, İSTANBUL/TURKEY
11- İSTANBUL UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, İSTANBUL/TURKEY
12- PAMUKKALE UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, DENIZLI/TURKEY
13- ULUDAĞ UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, BURSA/TURKEY
14- ÇUKUROVA UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, ADANA/TURKEY
15- KEÇIÖREN TRAINING AND RESEARCH HOSPITAL, PEDIATRIC NEPHROLOGY CLINIC, ANKARA/TURKEY
16- GAZI UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, ANKARA/TURKEY
17- KOCAELI UNIVERSITY MEDICAL FACULTY, DEPARTMENT OF PEDIATRIC NEPHROLOGY, KOCAELI/TURKEY
18- LIV HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY, İSTANBUL/TURKEY
19- TEPECIK TRAINING AND RESEARCH HOSPITAL, PEDIATRIC NEPHROLOGY CLINIC, İZMIR/TURKEY
 
Introduction:

 C3 glomerulopathy (C3G) is a complement-mediated disease.Abnormalities in complement genes are implicated in the development of C3G.The aim of this study is to determine the factors affecting the clinical course of pediatric C3G patients with and without mutations in genes regulating alternative complement pathway.

Material and methods:

 Sixty pediatric patients with C3G from 18 referral centers in Turkey were included in study.Patients were classified according to whether they had any complement genetic mutations or not.Demographic data, clinicopathologic findings,treatment,and outcome data were compared and survey analysis of groups with and without mutations was performed byKaplan-Meier analysis.

Results:

 There was no mutation in 30of60 patients.The most common mutation was in the CFH gene(53.3%).Mean age at diagnosis was 11.2±4.1years and 56%(n:28) of all patients were male.There was no difference between the group with and without mutation.Median follow-up time was 38.5months.The follow-up time of the group with mutation was significantly longer(23.6/37.6).While the patients without mutation were most frequently presented with the nephrotic syndrome(%46.7(n: 14)), the group with mutations presented with asymptomatic urinary findings(%49(n: 12)),and the difference was significant(p: 0.041).No significant difference was found when the serum BUN,creatinine,C3,C4 and urine microprotein/cr ratios were compared at the time of admission.While low albumin(<3gr/dl) was detected in 80%(n:24) of patients without mutation, this rate was36.7%(n:11) in the group with mutations and it was statistically significant(p:0.001).When the histopathological features were compared, no difference was found.During follow-up, CKD developed in 5 patients from both groups.In Kaplan-Meier analysis, the mean time to develop CKD was 100.3±12.6 months in the group without mutation, while it was 166.5±20.6 months in the group with mutation.The difference was not found statistically significant.In survival analysis in patients in all the groups and with mutation group, MMF treatment did not change the CKD process.

 

Figure1( left): Kaplan-Meier analysis for CKD in the group with and without mutation. Mean CKD development time in the group with and without mutation, respectively 166.5±20.6 and 100.3±12.6 months (p:0.176)Figure2(right): Kaplan-Meier analysis for CKD in study group by MMF use status. Mean CKD development time in the group with MMF use and don’t, respectively 130.9±19.7 and 111.6±5.9 months (p:0.282

 

Conclusions:

Complement mutations detected in pediatric C3G patients have no effect on clinical parameters and disease survival.