Browsing by Author "Mir, S"

Now showing 1 - 11 of 11
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    Association of FAS-670A/G and FASL-843C/T Gene Polymorphisms on Allograft Nephropathy in Pediatric Renal Transplant Patients
    Ertan, P; Mir, S; Ozkayin, N; Berdeli, A
    Objective: FAS and FASL polymorphisms are suggested to play an important role in tubulitis that is a major component of acute rejection. The aim of this study was to investigate the role of FAS-670A/G and FASL-843C/T gene polymorphisms on allograft nephropathy in pediatric renal transplant patients Methods: Fifty three patients (22 males 31 females) aged 2 to 20 years (mean 12.3 +/- 0.6) who had renal transplantation and fifty healthy control subjects (25 males 25 females) were enrolled in the study. Pearson's Chi Square test was used for the statistical analysis. Survival rates were estimated with the Kaplan Meier method. Age, sex, chronic renal failure etiology, treatment modality and duration and donor type were recorded. FAS-670A/G and FASL-843C/T gene polymorphisms were compared between renal transplant patients and normal healthy population as well as between renal transplant patients with and without acute rejection. Findings: FAS-670A/G genotypes or alleles were not significantly different between control and transplant patients and among transplant patients with and without acute rejection (P>0.05 for all). FASL-843C/T genotypes and alleles were not different between transplantation and control groups (P>0.05 for all). However, FASL-843C/T alleles were significantly different between patients with and without AR (P=0.02). The percentages of C allele were higher in children with acute rejection (68.8% vs 44.6%). Conclusion: FASL gene polymorphisms may play a major role in acute rejection while FAS polymorphisms have not been found to be different between patients with and without acute, renal graft rejection.
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    Autopsy Findings of a Case with Oxalosis
    Doganavsargil, B; Akil, I; Sen, S; Mir, S; Basdemir, G
    Oxalosis, deposition of calcium oxalate in tissues, is the final stage of hyperoxaluric syndromes. Being a rare entity, it is often missed, or the diagnosis is delayed, since the definitive diagnosis requires special laboratory tests. Kidneys, the walls of blood vessels, and bones are the major sites for crystal deposition. We report the autopsy findings of a 4-year-old girl who presented with end-stage renal disease in which the clinical presentation was consistent with primary hyperoxaluria Type 1. The case is unusual, as there was extensive crystal deposition throughout the body, including in tissues that are rarely involved, such as ovaries, fallopian tubes, uterus, thymus, salivary glands, pancreas, and bladder.
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    Renal Agenesis And Hypoplasia In Humans Are Not Associated Glial Cell Line-derived Neurotrophic Factor
    Evrengül, H; Ertan, P; Serdaroglu, E; Yüksel, S; Mir, S; Yangin, E; Berdali, A
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    Comprehensive Analysis of a Large-Scale Screen for MEFV Gene Mutations: Do They Truly Provide a Heterozygote Advantage in Turkey?
    Berdeli, A; Mir, S; Nalbantoglu, S; Kutukculer, N; Sozeri, B; Kabasakal, Y; Cam, S; Solak, M
    Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian disease. This study presents the molecular analysis of an MEFV gene mutation screen of 5518 Turkish individuals with clinical diagnoses of FMF. Patients were genetically diagnosed using the FMF StripAssay and DNA sequencing analysis. Contrary to the results achieved by the FMF StripAssay, DNA sequencing analysis identified large-scale coding and noncoding novel sequence variants, together with a significant group (76%) of individuals who were receiving colchicine and had a single heterozygous mutation, despite the recessive inheritance of FMF. In conclusion, sequence analysis, unlike other routine laboratory techniques, may enable screening for a broad range of nucleotide variations and may prevent less common, population-restricted, novel sequence variants from being overlooked.
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    RENAL AGENESIS AND HYOPLASIA IN HUMANS ARE NOT ASSOCIATED GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR
    Evrengul, H; Ertan, P; Serdaroglu, E; Yuksel, S; Mir, S; Ergon, EY; Berdeli, A
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    Genetic screening in adolescents with steroid-resistant nephrotic syndrome
    Lipska-Zietkiewicz, BS; Iatropoulos, P; Maranta, R; Caridi, G; Ozaltin, F; Anarat, A; Balat, A; Gellermann, J; Trautmann, A; Erdogan, O; Saeed, B; Emre, S; Bogdanovic, R; Azocar, M; Balasz-Chmielewska, I; Benetti, E; Caliskan, S; Mir, S; Melk, A; Ertan, P; Baskin, E; Jardim, H; Davitaia, T; Wasilewska, A; Drozdz, D; Szczepanska, M; Jankauskiene, A; Higuita, LMS; Ardissino, G; Ozkaya, O; Kuzma-Mroczkowska, E; Soylemezoglu, O; Ranchin, B; Medynska, A; Tkaczyk, M; Peco-Antic, A; Akil, I; Jarmolinski, T; Firszt-Adamczyk, A; Dusek, J; Simonetti, GD; Gok, F; Gheissari, A; Emma, F; Krmar, RT; Fischbach, M; Printza, N; Simkova, E; Mele, C; Ghiggeri, GM; Schaefer, F
    Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in WT1. Pathogenic INF2 mutations were found in 20% of the dominant but none of the sporadic cases. In a large cohort of adolescents including both familial and sporadic disease, NPHS2 mutations explained about 7% and WT1 4% of cases, whereas INF2 proved relevant only in autosomal dominant familial disease. Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome.
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    Effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease
    Lerch, C; Shroff, R; Wan, M; Rees, L; Aitkenhead, H; Bulut, IK; Thurn, D; Bayazit, AK; Niemirska, A; Canpolat, N; Duzova, A; Azukaitis, K; Yilmaz, E; Yalcinkaya, F; Harambat, J; Kiyak, A; Alpay, H; Habbig, S; Zaloszyc, A; Soylemezoglu, O; Candan, C; Rosales, A; Melk, A; Querfeld, U; Leifheit-Nestler, M; Sander, A; Schaefer, F; Haffner, D; Cortina, G; Arbeiter, K; Dusek, J; Harambat, J; Ranchin, B; Fischbach, M; Zalosczyk, A; Querfeld, U; Habbig, S; Galiano, M; Büscher, R; Gimpel, C; Kemper, M; Melk, A; Thurn, D; Schaefer, F; Doyon, A; Wühl, E; Pohl, M; Wygoda, S; Jeck, N; Kranz, B; Wigger, M; Montini, G; Lugani, F; Testa, S; Vidal, E; Matteucci, C; Picca, S; Jankauskiene, A; Azukaitis, K; Zurowska, A; Drodz, D; Tkaczyk, M; Urasinski, T; Litwin, M; Niemirska, A; Szczepanska, M; Texeira, A; Peco-Antic, A; Bucher, B; Laube, G; Anarat, A; Bayazit, AK; Yalcinkaya, F; Basin, E; Cakar, N; Soylemezoglu, O; Duzova, A; Bilginer, Y; Erdogan, H; Donmez, O; Balat, A; Kiyak, A; Caliskan, S; Canpolat, N; Candan, C; Civilibal, M; Emre, S; Alpay, H; Ozcelik, G; Mir, S; Sözeri, B; Yavascan, O; Tabel, Y; Ertan, P; Yilmaz, E; Shroff, R; Prytula, A; Bachetta, J; Haffner, D; Klaus, G; Gessner, M; Schmitt, CP; Stabouli, S; Reusz, G; Verrina, E; Groothoff, J; Tondel, C; Gamero, MA; Petrosyan, E; Bakkaloglu, SA; Dursun, I; Shroff, R
    Background. We investigated the effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism, i.e. serum levels of fibroblast growth factor 23 (FGF23), Klotho, bone alkaline phosphatase (BAP) and sclerostin, in two cohorts with chronic kidney disease (CKD). Methods. In all, 80 vitamin D-deficient children were selected: 40 with mild to moderate CKD from the ERGO study, a randomized trial of ergocalciferol supplementation [ estimated glomerular filtration rate (eGFR) 55 mL/min/1.73 m(2)], and 40 with advanced CKD from the observational Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study (eGFR 24 mL/min/1.73 m2). In each study, vitamin D supplementation was started in 20 children and 20 matched children not receiving vitamin D served as controls. Measures were taken at baseline and after a median period of 8 months. Age- and gender-related standard deviation scores (SDSs) were calculated. Results. Before vitamin D supplementation, children in the ERGO study had normal FGF23 (median 0.31 SDS) and BAP (-0.10 SDS) but decreased Klotho and sclerostin (-0.77 and -1.04 SDS, respectively), whereas 4C patients had increased FGF23 (3.87 SDS), BAP (0.78 SDS) and sclerostin (0.76 SDS) but normal Klotho (-0.27 SDS) levels. Vitamin D supplementation further increased FGF23 in 4C but not in ERGO patients. Serum Klotho and sclerostin normalized with vitamin D supplementation in ERGO but remained unchanged in 4C patients. BAP levels were unchanged in all patients. In the total cohort, significant effects of vitamin D supplementation were noted for Klotho at eGFR 40-70 mL/min/1.73 m(2). Conclusions. Vitamin D supplementation normalized Klotho and sclerostin in children with mild to moderate CKD but further increased FGF23 in advanced CKD.
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    Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children
    Azukaitis, K; Ju, WJ; Kirchner, M; Nair, V; Smith, M; Fang, ZY; Thurn-Valsassina, D; Bayazit, A; Niemirska, A; Canpolat, N; Bulut, IK; Yalcinkaya, F; Paripovic, D; Harambat, J; Cakar, N; Alpay, H; Lugani, F; Mencarelli, F; Civilibal, M; Erdogan, H; Gellermann, J; Vidal, E; Tabel, Y; Gimpel, C; Ertan, P; Yavascan, O; Melk, A; Querfeld, U; Wühl, E; Kretzler, M; Schaefer, F; Arbeiter, K; Rosales, A; Dusek, J; Zaloszyc, A; Liebau, M; Weber, L; Muschiol, E; Büscher, R; Oh, J; Thurn-Valassina, D; Haffner, D; John, U; Wygoda, S; Jeck, N; Wigger, M; Testa, S; Murer, L; Matteucci, C; Jankauskiene, A; Drozdz, D; Zurowska, A; Zaniew, M; Litwin, M; Nimierska, A; Teixeira, A; Peco-Antic, A; Laube, G; Anarat, A; Duzova, A; Bilginer, Y; Caliskan, S; Mir, S; Sozeri, B; Kranz, B; Dorn, B; Baskin, E; Soylemezoglu, O; Emre, S; Candan, C; Kiyak, A; Ozcelik, G; Shroff, R; Rachin, B; Szczepanska, M; Donmez, O; Balat, A; Aksu, N; Yilmaz, E; Anarat, A; Bakkaloglu, A; Ozaltin, F; Peco-Antic, A; Sallay, P; Drozdz, D; Bonzel, KE; Wingen, AM; Urowska, AZ; Balasz, I; Trivelli, A; Perfumo, F; Müller-Wiefel, DE; Möller, K; Offner, G; Enke, B; Hadtstein, C; Mehls, O; Emre, S; Caliskan, S; Mir, S; Wygoda, S; Hohbach-Hohenfellner, K; Jeck, N; Klaus, G; Ardissino, G; Testa, S; Montini, G; Charbit, M; Niaudet, P; Afonso, AC; Fernandes-Teixeira, A; Dusek, J; Matteucci, C; Picca, S; Wigger, M; Berg, UB; Celsi, G; Fischbach, M; Terzic, J; Fydryk, J; Urasinski, T; Coppo, R; Peruzzi, L; Grenda, R; Neuhaus, TJ
    Urinary epidermal growth factor (uEGF) has recently been identified as a promising biomarker of chronic kidney disease (CKD) progression in adults with glomerular disease. Low levels of uEGF predict CKD progression and appear to reflect the extent of tubulointerstitial damage. We investigated the relevance of uEGF in pediatric CKD. We performed a post hoc analysis of the Cardiovascular Comorbidity in Children with CKD (4C) study, which prospectively follows children aged 6-17 years with baseline estimated glomerular filtration rate (eGFR) of 10-60 ml/min/1.73 m(2). uEGF levels were measured in archived urine collected within 6 months of enrollment. Congenital abnormalities of the kidney and urinary tract were the most common cause of CKD, with glomerular diseases accounting for <10% of cases. Median eGFR at baseline was 28 ml/min/1.73 m(2), and 288 of 623 participants (46.3%) reached the composite endpoint of CKD progression (50% eGFR loss, eGFR < 10 ml/min/1.73 m(2), or initiation of renal replacement therapy). In a Cox proportional hazards model, higher uEGF/Cr was associated with a decreased risk of CKD progression (HR 0.76; 95% CI 0.69-0.84) independent of age, sex, baseline eGFR, primary kidney disease, proteinuria, and systolic blood pressure. The addition of uEGF/Cr to a model containing these variables resulted in a significant improvement in C-statistics, indicating better prediction of the 1-, 2- and 3-year risk of CKD progression. External validation in a prospective cohort of 222 children with CKD demonstrated comparable results. Thus, uEGF may be a useful biomarker to predict CKD progression in children with CKD.
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    Reno-vascular hypertension in childhood: a nationwide survey
    Bayazit, AK; Yalcinkaya, F; Cakar, N; Duzova, A; Bircan, Z; Bakkaloglu, A; Canpolat, N; Kara, N; Sirin, A; Ekim, M; Oner, A; Akman, S; Mir, S; Baskin, E; Poyrazoglu, HM; Noyan, A; Akil, I; Bakkaloglu, S; Soylu, A
    Renovascular disease accounts for 8-10% of all cases of paediatric hypertension, whereas, in adults, its incidence is approximately 1%. The Turkish Paediatric Hypertension Group aimed to create the first registry database for childhood renovascular hypertension in Turkey. Twenty of the 28 paediatric nephrology centres in Turkey responded to the survey and reported 45 patients (27 girls, 18 boys) with renovascular hypertension between 1990 and 2005. The age at presentation ranged from 20 days to 17 years. The mean blood pressure at the diagnosis was 169/110 mmHg. Chief complaints of symptomatic patients were headache (38%), seizure (18%), epistaxis (4%), growth retardation (4%), cognitive dysfunction (4%), polyuria (2%), palpitation (2%), and hemiplegia (2%). Renovascular hypertension was found incidentally in 11 children. The diagnosis of renovascular hypertension was established with conventional angiography in 39 patients, MR angiography in three, CT angiography in two, and captopril diethylene triamine penta-acetic acid (DTPA) scintigraphy in one patient. Twenty-one children had bilateral renal artery stenosis and 24 had unilateral renal artery stenosis. Of these, 14 (31%) had fibromuscular dysplasia; 12 (27%) Takayasu's arteritis; six (13%) neurofibromatosis; two (5%) Williams syndrome; one (2%) Kawasaki disease; one (2%) mid-aortic syndrome; one (2%) extrinsic compression to the renal artery, and eight (18%) unspecified bilateral renal artery stenosis. Hypertension was controlled with antihypertensive drugs in 17 patients. Percutaneous transluminal angioplasty (PTRA) or surgery had to be performed in 28 patients: PTRA in 16 patients, PTRA + surgery in one patient and surgery in 11 patients (four nephrectomies). The importance of vasculitic disease, especially Takayasu's arteritis, should not be underestimated in children with renovascular hypertension.
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    Renovascular hypertension in childhood: A nation-wide survey
    Bayazit, AK; Yalcinkaya, F; Cakar, N; Duzova, A; Bircan, Z; Aslan, S; Bakkaloglu, A; Canpolat, N; Kara, N; Sirin, A; Ekim, M; Oner, A; Akman, S; Mir, S; Baskin, E; Poyrazoglu, H; Noyan, A; Akil, I; Bakkaloglu, S; Soylu, A
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    Rapidly progressive glomerulonephritis in a child with Henoch-Schonlein Vasculitis and familial Mediterranean fever
    Sozeri, B; Mir, S; Ertan, P; Kara, OD; Sen, S
    Henoch-Schonlein Vasculitis (HSV) is systemic small vessel vasculitis involving the skin, kidney, joints, and gastrointestinal tract. The proportion of patients reported to have renal involvement varies between 20% and 80%. Rapidly progressive glomerulonephritis (RPGN)is rare syndrome in children, characterized by clinical features of glomerulonephritis (GN) and rapid loss of renal function. We present a severe kidney involvement in a 14 year old boy with HSV in who is carring MEFV mutation. A 14 year old boy had developed sudden onset of palpable purpuric rash on his extensor surfaces of lower extremities. He had elevated an erythrocyte sedimentation rate (ESR) (45 mm/h), C-reactive protein (3.74 mg/dl), serum urea 66 mg/dl, serum creatinine 1.8 mg/dl. Also, he had hypocomplementemia. Antinuclear antibody, anti ds DNA, antineutrophil cytoplasmic antibody, anticardiolipine antibodies were negative. Urinalysis revealed macroscopic hematuria and proteinuria with a 24-h urinary protein excretion of 55 mg/m2/h. The renal biopsy specimen showed crescentic and necrotizing glomerulonephritis. He had also M694V/E148Q compound heterozygote mutation. Clinical symptoms and renal failure resolved with intermittant hemodialysis and medical therapy.