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ALPAY, HARİKA

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    PublicationOpen Access
    Is renal abscess still a problem?
    (MARMARA UNIV, FAC MEDICINE, 2021-01-26) ALPAY, HARİKA; Sak, Mehtap; Gokce, Ibrahim; Cicek, Neslihan; Guven, Sercin; Ergelen, Rabia; Yildiz, Nurdan; Alpay, Harika
    Renal abscess, the accumulation of infected fluid in the kidney, is a rare condition seen in children as well as adults. It leads to long term hospital admission and antibiotic use. Early diagnosis is an important factor in the outcome of renal abscess because the management may differ. Urinalysis test results and radiologic imaging findings of the patients who are admitted to hospital with complaints of fever, vomiting, abdominal pain or flank pain are important for the early diagnosis. Undertreated cases have high risk for renal scar formation. In this paper, we aim to present three pediatric patients, who showed the complication of renal abscess and were treated with long term antibiotic use without a need for surgical drainage.
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    PublicationOpen Access
    ADPedKD: A Global Online Platform on the Management of Children With ADPKD
    (ELSEVIER SCIENCE INC, 2019-09) ALPAY, HARİKA; De Rechter, Stephanie; Bockenhauer, Detlef; Guay-Woodford, Lisa M.; Liu, Isaac; Mallett, Andrew J.; Soliman, Neveen A.; Sylvestre, Lucimary C.; Schaefer, Franz; Liebau, Max C.; Mekahli, Djalila; Adamczyk, P.; Akinci, N.; Alpay, H.; Ardelean, C.; Ayasreh, N.; Aydin, Z.; Bael, A.; Baudouin, V; Bayrakci, U. S.; Bensman, A.; Bialkevich, H.; Biebuyck, A.; Boyer, O.; Bjanid, O.; Brylka, A.; Caliskan, S.; Cambier, A.; Camelio, A.; Carbone, V; Charbit, M.; Chiodini, B.; Chirita, A.; Cicek, N.; Cerkauskiene, R.; Collard, L.; Conceicao, M.; Constantinescu, I; Couderc, A.; Crapella, B.; Cvetkovic, M.; Dima, B.; Diomeda, F.; Docx, M.; Dolan, N.; Dossier, C.; Drozdz, D.; Drube, J.; Dunand, O.; Dusan, P.; Eid, L. A.; Emma, F.; Espino Hernandez, M.; Fila, M.; Furlano, M.; Gafencu, M.; Ghuysen, Ms; Giani, M.; Giordano, M.; Girisgen, I; Godefroid, N.; Godron-Dubrasquet, A.; Gojkovic, I; Gonzalez, E.; Gokce, I; Groothoff, J. W.; Guarino, S.; Guffens, A.; Hansen, P.; Harambat, J.; Haumann, S.; He, G.; Heidet, L.; Helmy, R.; Hemery, F.; Hooman, N.; Ilanas, B.; Jankauskiene, A.; Janssens, P.; Karamaria, S.; Kazyra, I; Koenig, J.; Krid, S.; Krug, P.; Kwon, V; La Manna, A.; Leroy, V; Litwin, M.; Lombet, J.; Longo, G.; Lungu, A. C.; Mallawaarachchi, A.; Marin, A.; Marzuillo, P.; Massella, L.; Mastrangelo, A.; McCarthy, H.; Miklaszewska, M.; Moczulska, A.; Montini, G.; Morawiec-Knysak, A.; Morin, D.; Murer, L.; Negru, I; Nobili, F.; Obrycki, L.; Otoukesh, H.; Ozcan, S.; Pape, L.; Papizh, S.; Parvex, P.; Pawlak-Bratkowska, M.; Prikhodina, L.; Prytula, A.; Quinlan, C.; Raes, A.; Ranchin, B.; Ranguelov, N.; Repeckiene, R.; Ronit, C.; Salomon, R.; Santagelo, R.; Saygili, S. K.; Schaefer, S.; Schreuder, M.; Schurmans, T.; Seeman, T.; Segers, N.; Sinha, M.; Snauwaert, E.; Spasojevic, B.; Stabouli, S.; Stoica, C.; Stroescu, R.; Szczepanik, E.; Szczepanska, M.; Taranta-Janusz, K.; Teixeira, A.; Thumfart, J.; Tkaczyk, M.; Torra, R.; Torres, D.; Tram, N.; Utsch, B.; Vande Walle, J.; Vieux, R.; Vitkevic, R.; Wilhelm-Bals, A.; Wuehl, E.; Yildirim, Z. Y.; Yuksel, S.; Zachwieja, K.
    Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease.
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    PublicationOpen Access
    A case of granulomatosis of polyangiitis presenting with COVID-19 infection: False-positivity or co-existence?
    (2023-09-29) KAYA, MİTHAT; GÖKCE, İBRAHİM; ALPAY, HARİKA; KAYA M., GÖKCE İ., Guven S., Pul S., ALPAY H.
    Coronavirus disease 2019 (COVID-19) was declared a global pandemic and a public health emergency worldwide in March 2020. COVID-19 presents with non-specific symptoms of the upper airway and pulmonary system, which can overlap with other diseases involving the respiratory system as granulomatosis with polyangiitis (GPA). Both diseases have high morbidity and mortality rates and it is important to promptly differentiate and treat them. Real-time reverse transcriptase polymerase chain reaction (RT-PCR) is currently the recommended method for diagnosing COVID-19. Antibody-based tests are used to diagnose both pat and current COVID-19 infections. We present a previously healthy thirteen-year-old girl who was admitted with upper airway symptoms and pulmonary involvement, and progressed to acute kidney failure. Laboratory findings showed leukocytosis, anemia, elevated kidney function tests and 2+ proteinuria. Computed tomography (CT) of the lungs showed multiple nodules, cavities, and ground-glass opacities (GGOs). We performed RT-PCR tests for COVID-19 for three times. Results were all negative, but the COVID-19 immunoglobulin (Ig)M test sent simultaneously was positive. Based on the cytoplasmic antineutrophilic cytoplasmic antibody (c-ANCA) positivity, upper airway, pulmonary, and renal involvement, she was diagnosed as GPA. This report highlights that COVID-19 antibody tests can be false-positive in patients with autoimmune diseases including GPA.
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    PublicationOpen Access
    Findings from 4C-T Study demonstrate an increased cardiovascular burden in girls with end stage kidney disease and kidney transplantation
    (2021) ALPAY, HARİKA; Sugianto, Rizky I.; Memaran, Nima; Schmidt, Bernhard M. W.; Doyon, Anke; Thurn-Valsassina, Daniela; Alpay, Harika; Anarat, Ali; Arbeiter, Klaus; Azukaitis, Karolis; Bayazit, Aysun K.; Bulut, Ipek K.; Caliskan, Salim; Canpolat, Nur; Duzova, Ali; Gellerman, Jutta; Harambat, Jerome; Homeyer, Denise; Litwin, Mieczyslaw; Mencarelli, Francesca; Obrycki, Lukasz; Paripovic, Dusan; Ranchin, Bruno; Shroff, Rukshana; Tegtbur, Uwe; Born, Jeannine von der; Yilmaz, Ebru; Querfeld, Uwe; Wühl, Elke; Schaefer, Franz; Melk, Anette
    Mortality in children with kidney failure is higher in girls than boys with cardiovascular complications representing the most common causes of death. Pulse wave velocity (PWV), a measure of vascular stiffness, predicts cardiovascular mortality in adults. Here, PWV in children with kidney failure undergoing kidney replacement therapy was investigated to determine sex differences and potential contributing factors. Two-hundred-thirty-five children (80 girls; 34%) undergoing transplantation (150 pre-emptive, 85 with prior dialysis) having at least one PWV measurement pre- and/or post-transplantation from a prospective cohort were analyzed. Longitudinal analyses (median/maximum follow-up time of 6/9 years) were performed for PWV z-scores (PWVz) using linear mixed regression models and further stratified by the categories of time: pre-kidney replacement therapy and post-transplantation. PWVz significantly increased by 0.094 per year and was significantly higher in girls (PWVz +0.295) compared to boys, independent of the underlying kidney disease. During pre-kidney replacement therapy, an average estimated GFR decline of 4ml/min/1.73m2 per year was associated with a PWVz increase of 0.16 in girls only. Higher diastolic blood pressure and low density lipoprotein were independently associated with higher PWVz during pre-kidney replacement therapy in both sexes. In girls post-transplantation, an estimated GFR decline of 4ml/min/1.73m2 per year pre-kidney replacement therapy and a longer time (over 12 months) to transplantation were significantly associated with higher PWVz of 0.22 and of 0.57, respectively. PWVz increased further after transplantation and was positively associated with time on dialysis and diastolic blood pressure in both sexes. Thus, our findings demonstrate that girls with advanced chronic kidney disease are more susceptible to develop vascular stiffening compared to boys, this difference persist after transplantation and might contribute to higher mortality rates seen in girls with kidney failure.
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    PublicationOpen Access
    Serum leptin concentration in children with chronic renal failure
    (DR BEHCET UZ COCUK HASTALIKLARI VE CERRAHISI, 2018) ALPAY, HARİKA; Atas Berksoy, Emel; Alpay, Harika; Yildiz, Nurdan; User, Yasemen
    Objective: Various factors are responsible for uremic anorexia. Increase in serum leptin levels and uremic toxins stimulate melanocortin hormone receptors to increase energy consumption and reduce food intake. In this study, we investigated renal excretion of leptin by comparing serum leptin concentrations of healthy controls, and children with chronic renal failure.& para;& para;Methods: Serum leptin, leptin / BMI, albumin, glucose, creatinine, urea, triglyceride and cholesterol levels were eveluated in a total of 33 pediatric patients followed up for chronic renal failure and 29 healthy children in the control group.& para;& para;Results: Serum leptin levels (18.49 +/- 28.55) and leptin / BMI (0.94 +/- 1.36) in female patients were higher than leptin (7.73 +/- 5.65) and leptin / BMI (0.39 +/- 0.25) in the control group (p>0.05). In male patients, serum leptin levels (1.48 +/- 1.36; 4.88 +/- 3.70) and leptin/ BMI (0.08 +/- 0.081; 0.25 +/--0.16) were found to be lower than those of the control group (p<0.01). Serum leptin levels showed a significant positive correlation with BMI in female patients with chronic renal failure and, healthy women; whilethere was no correlation between leptin and BMI in the male patient group. There was no correlation between leptin and glomerular filtration rate and serum creatinine levels in all patients excepting male dialysis patients. There was no correlation between serum leptin levels and age, time to disease diagnosis, and duration of dialysis.& para;& para;Conclusion: Lack of any correlation between serum leptin levels, and renal functions, and detection of significantly lower serum leptin concentrations in male children with renal failure relative to healthy male children suggest that there might be other factors involved in the synthesis, activity or extrarenal clearance of leptin or its receptor proteins.
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    PublicationOpen Access
    Invasive aspergillosis in a patient with end stage renal disease
    (ELSEVIER SCIENCE BV, 2017-12) KEPENEKLİ KADAYİFCİ, EDA; Cicek, Neslihan; Yildiz, Nurdan; Kadayifci, Eda Kepenekli; Gokce, Ibrahim; Alpay, Harika
    Invasive aspergillosis caused by A. Fumigatus, almost occurs in immunocompromised hosts and has a poor prognosis. We report a case of invasive Aspergillosis in a 15-year-old boy with ESRD. He was initially diagnosed as lobar pneumonia and peritonitis. When he complained for lower extremity weakness and had convulsions, a solid mass originated from right lung compresses the spinal cord and intracranial hemorrhagic abscesses were found on MRI. The biopsy specimen showed hypae of aspergillus-spp and he died on 12th day.
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    PublicationOpen Access
    Nefrolityazis tanısıyla başvuran bir olguda Dent hastalığı
    (2013-10-01) YILDIZ, NURDAN; GÖKCE, İBRAHİM; ALPAY, HARİKA; YILDIZ N., ÇİÇEK DENİZ N., ALTUNTAŞ Ü., GÖKCE İ., ALPAY H.
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    PublicationOpen Access
    Management of children with congenital nephrotic syndrome: challenging treatment paradigms
    (OXFORD UNIV PRESS, 2019-08-01) ALPAY, HARİKA; Dufek, Stephanie; Holtta, Tuula; Trautmann, Agnes; Ylinen, Elisa; Alpay, Harika; Ariceta, Gema; Aufricht, Christoph; Bacchetta, Justine; Bakkaloglu, Sevcan A.; Bayazit, Aysun; Cicek, Rumeysa Yasemin; Dursun, Ismail; Duzova, Ali; Ekim, Mesiha; Iancu, Daniela; Jankauskiene, Augustina; Klaus, Guenter; Paglialonga, Fabio; Pasini, Andrea; Printza, Nikoleta; Conti, Valerie Said; Faria, Maria do Sameiro; Schmitt, Claus Peter; Stefanidis, Constantinos J.; Verrina, Enrico; Vidal, Enrico; Vondrak, Karel; Webb, Hazel; Zampetoglou, Argyroula; Bockenhauer, Detlef; Edefonti, Alberto; Shroff, Rukshana
    Background. Management of children with congenital nephrotic syndrome (CNS) is challenging. Bilateral nephrectomies followed by dialysis and transplantation are practiced in most centres, but conservative treatment may also be effective. Methods. We conducted a 6-year review across members of the European Society for Paediatric Nephrology Dialysis Working Group to compare management strategies and their outcomes in children with CNS. Results. Eighty children (50% male) across 17 tertiary nephrology units in Europe were included (mutations in NPHS1, n = 55; NPHS2, n = 1; WT1, n = 9; others, n = 15). Excluding patients with mutations in WT1, antiproteinuric treatment was given in 42 (59%) with an increase in S-albumin in 70% by median 6 (interquartile range: 3-8) g/L (P< 0.001). Following unilateral nephrectomy, S-albumin increased by 4 (1-8) g/L (P = 0.03) with a reduction in albumin infusion dose by 5 (2-9) g/kg/week (P = 0.02). Median age at bilateral nephrectomies (n = 29) was 9 (7-16) months. Outcomes were compared between two groups of NPHS1 patients: those who underwent bilateral nephrectomies (n = 25) versus those on conservative management (n = 17). The number of septic or thrombotic episodes and growth were comparable between the groups. The response to antiproteinuric treatment, as well as renal and patient survival, was independent of NPHS1 mutation type. At final follow-up (median age 34months) 20 (80%) children in the nephrectomy group were transplanted and 1 died. In the conservative group, 9 (53%) remained without dialysis, 4 (24%; P< 0.001) were transplanted and 2 died. Conclusion. An individualized, stepwise approach with prolonged conservative management may be a reasonable alternative to early bilateral nephrectomies and dialysis in children with CNS and NPHS1 mutations. Further prospective studies are needed to define indications for unilateral nephrectomy.
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    PublicationOpen 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.]
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    PublicationOpen 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.