Person: AKKOYUNLU, BETÜL
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AKKOYUNLU
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BETÜL
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Publication Complement gene mutations in children with C3 glomerulopathy: Do they affect the response to mycophenolate mofetil?(Springer, 2023-12-02) Günay, Neslihan; Dursun, İsmail; Gökce, Ibrahim; Kara, Mehtap Akbalik; Tekcan, Demet; Çiçek, Neslihan; Bayram, Meral Torun; Koyun, Mustafa; Dincel, Nida; Dursun, Hasan; Saygılı, Seha; Yıldırım, Zeynep Nagehan Yürük; Yüksel, Selçuk; Yel, Sibel; Kılıç, Beltinge Demircioğlu; Aydoğ, Özlem; Atmıs, Bahriye; Yılmaz, Aysun Çaltık; Bakkaloğlu, Sevcan A.; Aytaç, Mehmet Baha; Taşdemir, Mehmet; Kasap Demir, Belde; Soylu, Alper; Çomak, Elif; Özşahin, Aslı Kantar; Kaçar, Alper; Canpolat, Nur; Yılmaz, Alev; Girişgen, İlknur; Alpay, Harika; Poyrazoğlu, Hakan M.; DÖNMEZ, OSMAN; AKKOYUNLU, BETÜL; Tıp Fakültesi; Çocuk Sağlığı ve Hastalıkları Ana Bilim DalıBackgroundC3 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 informationPublication Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: A multicenter study(Elsevier France-Editions Scientifiques Medicales Elsevier, 2023-03-24) Kisaarslan, Aysenur Pac; Cicek, Sumeyra Ozdemir; Batu, Ezgi D.; Sahin, Sezgin; Gurgoze, Metin K.; Cetinkaya, Sibel Balci; Ekinci, Miray Kisla; Atmis, Bahriye; Barut, Kenan; Adrovic, Amra; Agar, Buket Esen; Sahin, Nihal; Demir, Ferhat; Baglan, Esra; Kara, Mehtap Akbalik; Selcuk, Senay Zirhli; Ozdel, Semanur; Comak, Elif; Akkoyunlu, Betuel; Yener, Guelcin Otar; Yildirim, Deniz Gezgin; Ozturk, Kubra; Yildiz, Mehmet; Haslak, Fatih; Sener, Seher; Kisaoglu, Hakan; Baba, Oezge; Kizildag, Zehra; Isguder, Rana; Caglayan, Senguel; Bilgin, Raziye B. Gueven; Aytac, Guelcin; Yucel, Burcu Bozkaya; Tanatar, Ayse; Sonmez, Hafize E.; Cakan, Mustafa; Kara, Aslihan; Elmas, Ahmet T.; Kilic, Beltinge Demircioglu; Ayaz, Nuray Aktay; Kasap, Belde; Acar, Banu Celikel; Ozkaya, Ozan; Yueksel, Selcuk; Bakkaloglu, Sevcan; Aydog, Ozlem; Aksu, Guzide; Akman, Sema; Donmez, Osman; Bulbul, Mehmet; Buyukcelik, Mithat; Tabel, Yilmaz; Sozeri, Betuel; Kalyoncu, Mukaddes; Bilginer, Yelda; Poyrazoglu, Muammer H.; Unsal, Erbil; Kasapcopur, Ozgur; Ozen, Seza; Dusunsel, Ruhan; AKKOYUNLU, BETÜL; DÖNMEZ, OSMAN; Tıp Fakültesi; Pediatrik Nefroloji ve Romatoloji Ana Bilim Dalı; JHC-5766-2023; IRG-7973-2023Introduction: Neuropsychiatric (NP) involvement is a restricted area in juvenile-onset systemic lupus erythematosus (jSLE). Aim: To investigate the prevalence, demographic and clinical features, and outcomes of the neurological involvement in the Turkish jSLE population. Methods: This study was based upon 24 referral centers' SLE cohorts, multicenter and multidisciplinary network in Turkey. Patient data were collected by a case report form which was standardized for NP definitions according to American Collage of Rheumatology (ACR). Systemic Lupus International Collab-orating Clinics/American College of Rheumatology Damage Index (SDI) neuropsychiatric part was used to determine NP damage. Variables were evaluated Ward's hierarchical clustering analyses, univariate, and multivariate logistic regression analyses. Results: A hundred forty-nine of 1107 jSLE patients had NP involvement (13.5%). The most common NPSLE findings were headache (50.3%), seizure (38.3%), and acute confusional state (33.6%). Five clusters were identified with all clinical and laboratory findings. The first two clusters involved neuropathies, demyelinating diseases, aseptic meningitis, and movement disorder. Cluster 3 involved headache, activ-ity markers and other SLE involvements. Idiopathic intracranial hypertension, cerebrovascular disease, cognitive dysfunction, psychiatric disorders and SLE antibodies were in the fourth, and acute confusional state was in the fifth cluster. In multivariate analysis, APA positivity; OR: 2.820, (%95CI: 1.002-7.939), P: 0,050, plasmapheresis; OR: 13.804 (%95CI: 2.785-68.432), P: 0,001, SLEDAI scores; OR: 1.115 (%95CI: (1.049-1.186), P: 0,001 were associated with increased risk for neurologic sequelae. Conclusion: We detected the prevalence of juvenile NPSLE manifestations in Turkey. We have identified five clusters that may shed light pathogenesis, treatment and prognosis of NP involvements. We also determined risk factors of neurological sequelae. Our study showed that new definitions NP involvements and sequelae for childhood period are needed. (c) 2023 Socie ' te ' franc,aise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved.