Person: ALPAY, HARİKA
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ALPAY
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HARİKA
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Publication Open Access Complement gene mutations in children with C3 glomerulopathy: Do they affect the response to mycophenolate mofetil(2023-01-01) GÖKCE, İBRAHİM; ÇİÇEK DENİZ, NESLİHAN; ALPAY, HARİKA; Günay N., DURSUN İ., GÖKCE İ., Akbalık Kara M., Tekcan D., ÇİÇEK N., TORUN BAYRAM M., KOYUN M., Dinçel N., Dursun H., et al.Background: 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.]Publication Open Access Catastrophic antiphospholipid syndrome accompanied by complement regulatory gene mutation(2023-03-01) GÖKCE, İBRAHİM; DEMİRCİ BODUR, ECE; ÇİÇEK DENİZ, NESLİHAN; SAK, MEHTAP; FİLİNTE, DENİZ; ALPAY, HARİKA; Pul S., GÖKCE İ., DEMİRCİ BODUR E., Guven S., ÇİÇEK N., SAK M., Turkkan O. N., FİLİNTE D., Pehlivanoglu C., Sozeri B., et al.Background. Antiphospholipid syndrome (APS), particularly the catastrophic antiphospholipid syndrome (CAPS), is one of the rare causes of thrombotic microangiopathy (TMA). CAPS is the most severe form of APS, especially when accompanied by complement dysregulation, causes progressive microvascular thrombosis and failure in multiple organs. In this report, a case of CAPS with TMA accompanied by a genetic defect in the complement system is presented.Case. A 13-year-old girl was admitted to the hospital with oliguric acute kidney injury, nephrotic range proteinuria, Coombs positive hemolysis, refractory thrombocytopenia, a low serum complement C3 level and anti-nuclear antibody (ANA) positivity. The kidney biopsy was consistent with TMA. She was first diagnosed with primary APS with clinical and pathological findings and double antibody positivity. As initial treatments, plasmapheresis (PE) was performed and eculizumab was also administered following pulse -steroid and intravenous immunoglobulin treatments. Her renal functions recovered and she was followed up with mycophenolate mofetil, hydroxychloroquine, low dose prednisolone and low molecular weight heparin treatments. The patient presented with severe chest pain, vomiting and acute deterioration of renal functions a few months after the diagnosis of TMA. A CAPS attack was considered due to radiological findings consistent with multiple organ thrombosis and intravenous cyclophosphamide (CYC) was given subsequent to PE. After pulse CYC and PE treatments, her renal functions recovered, she is still being followed for stage-3 chronic kidney disease. Complement factor H-related protein I gene deletion was detected in the genetic study.Conclusions. The clinical course of complement mediated CAPS tends to be worse. Complement system dysregulation should be investigated in all CAPS patients, and eculizumab treatment should be kept in mind if detected.Publication Open Access Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature(2023-01-01) GÖKCE, İBRAHİM; KAYA, MİTHAT; ÇİÇEK DENİZ, NESLİHAN; YILDIZ, NURDAN; KAYA, HANDAN; ALPAY, HARİKA; GÖKCE İ., KAYA M., ÇİÇEK N., Guven S., Ercetin Y., YILDIZ N., KAYA H., ALPAY H.Collapsing glomerulopathy (CG) is a proliferative disease characterized by segmental or global wrinkling of the glomerular basement membrane and the formation of pseudocrescents, whereas focal segmental glomerulosclerosis (FSGS) is characterized by podocytopenia, and focal and segmental sclerosis of the glomeruli. Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients. The mutations p.R895C and p.R895L in Exon 13 are the only ones in TRPC6 causing CG reported to date. Here, we present the case of a 17-year-old male patient with a collapsing variant of familial FSGS caused by a mutation in TRPC6 (p.R895C) who presented with rapidly progressive (crescentic) and proliferative glomerulonephritis.Publication Metadata only Clinic spectrum of cubulin mutations(2022-11-13) ÇİÇEK DENİZ, NESLİHAN; ALPAY, HARİKA; GÖKCE, İBRAHİM; Çiçek N., Alpay H., Güven S., Türkkan Ö. N., Pul S., Demirci E., Alavanda C., Yıldız N., Ata P., Gökce İ.