Person: ALPAY, HARİKA
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ALPAY
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HARİKA
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Publication Metadata only Çok nadir görülen bir olgu: üç üreter ve VUR(2018-05-03) ÇİÇEK DENİZ, NESLİHAN; YILDIZ, NURDAN; ALPAY, HARİKA; Tugtepe H., canmemiş a., ÇİÇEK N., YILDIZ N., ALPAY H., dağlı t.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 Clinical and genetic characterization of children with cubilin variants(2022-09-16) GÖKCE, İBRAHİM; ATA, PINAR; ALPAY, HARİKA; GÜVEN, SERÇİN; ALAVANDA, CEREN; ÇİÇEK DENİZ, NESLİHAN; PUL, SERİM; DEMİRCİ BODUR, ECE; YILDIZ, NURDAN; Cicek N., Alpay H., Guven S., Alavanda C., Türkkan Ö. N. , Pul S., Demirci E., Yıldız N., Ata P., Gokce İ.Background Cubilin is one of the receptor proteins responsible for reabsorption of albumin in proximal tubules and is encoded by the CUBN gene. We aimed to evaluate clinical and genetic characterization of six patients with proteinuria who had CUBN mutations. Methods Patients’ characteristics, serum creatinine, albumin, vitamin B12 levels, urine analysis, spot urine protein/creatinine, microalbumin/creatinine, beta-2 microglobulin/creatinine ratios, estimated glomerular fltration rates (eGFR), treatments, kidney biopsies, and genetic analyses were evaluated. Results Six patients (2 female, 4 male) with an incidental finding of proteinuria were evaluated. Mean admission age and follow-up time were 7.3 ± 2.9 and 6.5 ± 5.6 years, respectively. Serum albumin, creatinine, and eGFR were normal; urine analysis revealed no hematuria, and C3, C4, ANA, and anti-DNA were negative; kidney ultrasonography was normal for all patients. Urine protein/creatinine was 0.9± 0.3 mg/mg, and microalbumin was high in all patients. Serum vitamin B12 was low in two patients and normal in four. Kidney biopsy was performed in four patients, three demonstrated normal light microscopy, and there was one focal segmental glomerulosclerosis (FSGS). Genetic tests revealed four homozygous and two compound heterozygous mutations in the C-terminal part of cubilin. All patients had normal eGFR and still had non-nephrotic range proteinuria at last visit. Conclusions CUBN gene mutations should be considered in patients with isolated non-nephrotic range proteinuria and normal kidney function. Diagnosing these patients, who are thought to have a better prognosis, is important in terms of avoiding unnecessary treatment and predicting prognosis. CUBN gene mutations may also present as FSGS which extends the spectrum of renal manifestation of these patients.Publication Metadata only Dizüri(İstanbul Tıp Kitapevleri, 2021-01-01) ÇİÇEK DENİZ, NESLİHAN; ALPAY, HARİKA; ÇİÇEK N., ALPAY H.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 Metadata only Anxiety, depression and coping of children with chronic kidney disease and their caregivers during the COVID-19 pandemic(2021-09-16) YILDIZ, NURDAN; ÇİÇEK DENİZ, NESLİHAN; DEMİRCİ BODUR, ECE; ALPAY, HARİKA; TÜRKKAN Ö. N., YILDIZ N., ÇİÇEK N., DEMİRCİ BODUR E., GÜVEN S., SAK M., PUL S., ALPAY H.Introduction: In this study, we aimed to evaluate our patients with chronic kidney disease(CKD) or kidney transplant recipients(KTx) and their parent’s/caregiver’s anxiety and depression levels and abilities of coping with difficulties during the COVID-19 pandemic. Material and methods: This cross-sectional study was conducted on 80 children with predialysis CKD, children on dialysis and KTx, 30 healthy children between 7-18 years of age and their care providers. Children were surveyed by the Strengths and Difficulties Questionnaire(SOQ-T), Screen for Child Anxiety Related Disorders(SCARED), childhood depression inventory and parents or caregivers by Coping Attitudes Assessment Scale(COPE), Beck Depression Inventory and Beck Anxiety Inventory.All questionnaires were done face-to-face or by phone and scored in accordance with the scales. Results: Signs of anxiety (SCARED scores) was present in 26(32.5%) patients and 4(13.3%) controls, and significantly higher in children with CKD and KTx recipients (p=0.03). Sixty-nine children and all controls have a depression scale of >19 and control group showed significantly higher depression scores than the patients (mean±SD,51.6±2.8 vs. 47.5±11.1; respectively, p=0.009). Thirteen (16.3%) patient and 2(6.7%) controls have high SDQDysregulation Profile(SDQ-DP) scores. SDQ-DP scores of the patients were significantly higher than the controls (9.6±5.3 vs. 7.2 ±5.8, respectively; p=0.000). There was no significant difference of mothers in coping with difficulties, anxiety and depression scores between the groups(p>0.05). Higher degree of anxiety of the patients was significantly associated with higher anxiety and depression symptoms of the mothers in the patients group (r=0.5, p=0.000 and r=0.435,p=0.001;respectively ),whereas there was no relationship between the SDQ-DP of the patients and Beck anxiety and depression scores of the mothers Conclusions: The COVID-19 outbreak causes increased anxiety in children with CKD and KTx and increased depression in healthy children. We may speculate that higher depression scores in healthy children may be due to sudden lifestyle restrictions during the pandemic compared to CKD patients who already have certain restrictions. The association of the increased anxiety of the patients with the depression and anxiety of the mothers has shown the necessity of more attention from mental health practitioners. Identifying affected children as early as possible and providing professional psychological and behavioral interventions will ensure a better mental health for children with chronic kidney diseases and their caregivers during the pandemic.Publication Open Access Spina bifidalı hastada ağır nöropatik ülser ve fungal dermatit(2013-10-01) ÇİÇEK DENİZ, NESLİHAN; YILDIZ, NURDAN; YÜCELTEN, AYŞE DENİZ; ALPAY, HARİKA; Aksu Ç., ÇİÇEK DENİZ N., YILDIZ N., YÜCELTEN A. D., ALPAY H.Kaudal nöral açıklığın yanlış kapanması spina bifida (SB) olarak bilinen vertebral ark defektlerini oluşturur. Sıklığı 4-5/10.000 canlı doğumdur. Medulla spinalisin kese şeklinde dışarı çıktığı spina bifida sistika nöral tüp defektinin düzeyi ile uyum gösteren ağır nörolojik kusurlara yol açar. Duyu kaybı, paralizi, barsak ve mesane fonksiyon kaybı sıktır. Hastaların paraliziye bağlı postürlerinden kaynaklanan bası ülserleri ve cilt lezyonları sık rastlanan tıbbi problemlere odaklanıldığında gözden kaçabilir ve önemli sorunlara yol açabilir. Bu yazıda idrar yolu enfeksiyonu ve hipertansiyon nedeni ile başvuran, fizik muayenesinde gluteal bölgelerde yaygın dermatiti ve sağ dizinde derin bası ülseri saptanan SB’li on bir yaşında bir erkek olgu sunulmuş, hastaların uzun dönem izlemlerinde ortaya çıkabilen ve yaşam kalitesini düşüren lokal komplikasyonlara dikkat çekilmek istenmiştir. (Haseki T›p Bülteni 2013; 51: 186-9)Publication Metadata only Periton diyaliz hastalarının erişkin nefrolojisi bölümüne devredilmesi(2021-01-01) ÇİÇEK DENİZ, NESLİHAN; ALPAY, HARİKA; ÇİÇEK N., ALPAY H.Diyaliz tedavisi ve böbrek naklindeki gelişmeler sonucunda, son dönem böbrek yetmezliğinde olan daha fazla sayıda çocuk hasta erişkin döneme ulaşmaktadır. Böbrek nakli kısa dönemde mümkün değilse, periton diyaliz tedavisi genellikle hem sağlık personelinin hem de ailenin tercihi olmaktadır. Genç hastalar için aile merkezli ve koruyucu yaklaşıma sahip çocuk kliniklerinden kendi sorumluluğunu almasını bekleyen erişkin kliniklerine devir (transition) zor olabilir. Bu geçişin hastanın yaşına ve gelişimine uygun olması, tıbbi ve psikolojik gereksinimlerini karşılaması gerekir. Geçiş işlemi hasta dışında ailesini, çocuk doktorunu, erişkin doktorunu, hemşireleri ve sosyal bakım uzmanlarını da içermelidir. Bu işlem özel geçiş polikliniklerinde yapılmalı, bu polikliniklerde hasta izleyen çocuk nefroloji doktoru tarafından tıbbi özeti ile erişkin nefroloji doktoruna sunulmalı ve genç hasta erişkin doktoru ile tanıştırılmalıdır. Periton diyaliz tedavisi almakta olan adolesan hastalar için yapılan uygun ve başarılı devir işlemi, genç hastanın gelecekteki tedavisini ve hastalığının prognozunu olumlu etkileyecektir.Publication Metadata only C3 glomerulopatide klinik seyir ve prognoz(2018-02-15) ÇİÇEK DENİZ, NESLİHAN; GÖKCE, İBRAHİM; YILDIZ, NURDAN; ALPAY, HARİKA; ÇİÇEK N., GÖKCE İ., YILDIZ N., SAK M., ALPAY H.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.