Person: ALPAY, HARİKA
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ALPAY
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HARİKA
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Publication Metadata only Could neutrophıl-lymphocyte ratıo be used as a prognostıc factor ın hemolytıc uremıc syndrome?(2022-11-01) YILDIZ, NURDAN; BİLGÜN, CEREN; DEMİRCİ BODUR, ECE; GÖKCE, İBRAHİM; ALPAY, HARİKA; YILDIZ N., BİLGÜN C., Guven S., DEMİRCİ BODUR E., Cicek N., Pul S., Turkkan O. N. , GÖKCE İ., ALPAY H.Publication Metadata only Clinical spectrum of cubulin mutations(2022-11-01) ALPAY, HARİKA; DEMİRCİ BODUR, ECE; ALAVANDA, CEREN; YILDIZ, NURDAN; ATA, PINAR; GÖKCE, İBRAHİM; Cicek N., ALPAY H., Guven S., Turkkan O. N. , Polat S., DEMİRCİ BODUR E., ALAVANDA C., YILDIZ N., ATA P., GÖKCE İ.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 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 Usıng cortıcosteroıds ın the treatment of acute tubular necrosıs: effectıve or not?(2022-11-01) GÖKCE, İBRAHİM; DEMİRCİ BODUR, ECE; YILDIZ, NURDAN; ALPAY, HARİKA; GÖKCE İ., Pul S., DEMİRCİ BODUR E., Turkkan O. N. , Guven S., Cicek N., YILDIZ N., ALPAY H.Publication Metadata only A late onset uveıtıs after tubuloıntertıtıal nephrıtıs and uveıt (tınu) syndrome(2022-11-01) DEMİRCİ BODUR, ECE; GÖKCE, İBRAHİM; BAYRAKTAR, SEZİN; YILDIZ, NURDAN; ALPAY, HARİKA; DEMİRCİ BODUR E., GÖKCE İ., BAYRAKTAR S., Pul S., Turkkan O. N. , Guven S., Cicek N., YILDIZ N., ALPAY H.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 Recurrent acute kıdney ınjury due to thrombosıs of the vena cava ınferıor(2022-11-01) DEMİRCİ BODUR, ECE; YILDIZ, NURDAN; TRUE, ÖMER; ALPAY, HARİKA; GÖKCE, İBRAHİM; Turkkan O. N. , GÖKCE İ., Barlas B., Pul S., DEMİRCİ BODUR E., Guven S., Cicek N., YILDIZ N., DOĞRU Ö., ALPAY H.Rationale: Acute kidney injury (AKI) is a frequent complication after liver transplantation. In some patients, prompt intervention targeted at a specific etiology is of paramount importance.Presenting concerns of the patients: A 25 years old man with advanced liver cirrhosis caused by sclerosing cholangitis and autoimmune hepatitis underwent orthotopic liver transplantation. One month after surgery, severe AKI developed in conjunction with recurrent ascites and lower extremity edema. Notable clinical findings included a persistently low urinary sodium excretion, a bland urinary sediment, and an abnormally monophasic hepatic vein waveform on Doppler ultrasound.Diagnoses: Inferior vena cava stenosis.Interventions: Angioplasty with stent installation.Outcomes: Rapid improvement of renal function after stent installation.Lessons learned: The following case illustrates the importance of integrating clinical cues, ultrasound features, and laboratory findings. The combination of AKI associated with lower extremity edema, abnormal monophasic hepatic vein flow on Doppler ultrasound, and a low urinary sodium excretion after liver transplantation should evoke the possibility of inferior vena cava stenosis as the etiologic factor.Publication Metadata only Genetıc tests ın non-neurogenıc neurogenıc bladder: two sıblıngs wıth ochoa syndrome(2022-11-01) GÖKCE, İBRAHİM; ALAVANDA, CEREN; ŞEKERCİ, ÇAĞRI AKIN; DEMİRCİ BODUR, ECE; YILDIZ, NURDAN; YÜCEL, SELÇUK; ATA, PINAR; ALPAY, HARİKA; Pul S., GÖKCE İ., ALAVANDA C., ŞEKERCİ Ç. A. , DEMİRCİ BODUR E., Turkkan O. N. , Guven S., Cicek N., YILDIZ N., YÜCEL S., et al.