Browsing by Author "Sozeri, B"

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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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    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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    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.