Browsing by Author "Sözeri, B"

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    A Case of Henoch-Schonlein Purpura with P369S Mutation in MEFV Gene
    Ertan, P; Tekin, G; Sahin, GE; Kasirga, E; Taneli, F; Kandioglu, AR; Sözeri, B
    Background: Henoch-Schonlein purpura (HSP) is the most common vasculitis of childhood. HSP can affect multiple organs presenting with a characteristic rash in most of the patients. Familial Mediterranean Fever (FMF) is an inherited inflammatory disease common in mediterranean populations. HSP is the most common vasculitis seen in children with FMF. Case Presentation: A 16 year old boy was referred with history of abdominal pain lasting for 20 days. He was hospitalized and had appendectomy. Due to the persistence of his abdominal pain after surgery he was admitted to our hospital. His physical examination showed palpable purpuric rashes symmetrically distributed on lower extremities. Abdominal examination revealed periumbilical tenderness. Laboratory tests showed elevated erythrocyte sedimentation rate, C-reactive protein and fibrinogen. Urinalysis revealed microscopic hematuria and severe proteinuria. The fecal occult blood testing was positive. Based on these clinic findings, the patient was diagnosed as HSP with renal, gastrointestinal tract and skin involvement. We performed DNA analysis in our patient because he had diagnosis of vasculitis with severe symptoms and found that he was carrying heterozygote P369S mutation. Conclusion: Our case is noteworthy as it indicates that it may be important not to overlook presence of FMF mutations in patients with a diagnosis of severe vasculitis.
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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.