Tıp Fakültesi / Faculty of Medicine

Permanent URI for this collectionhttps://hdl.handle.net/11727/1403

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2015 - 20163

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Subject: search.filters.subject.CALCIUM

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    Gene Mutations in Chronic Kidney Disease Patients With Secondary Hyperparathyroidism and Sagliker Syndrome
    (2015) Demirhan, Osman; Arslan, Ahmet; Sagliker, Yahya; Akbal, Eylul; Ergun, Sercan; Bayraktar, Recep; Sagliker, Hasan Sabit; Dogan, Ekrem; Gunesacar, Ramazan; Ozkaynak, Piril Sagliker; 25701941
    Sagliker syndrome (SS) develops particularly before pubertywhile chronic kidney disease (CKD) reaches stage 3 with overt secondary hyperparathyroidism. We conducted screening for mutations in all the 13 exons of GNAS1 gene, all 3 exons of FGF23, and all 18 exons in FGFR3 genes in 23 patients. In 73.9%(17 of 23) patients, 17 genetic abnormalities inGNAS1were detected. Seven (58.3%) of 12 nucleotide alterations comprised novel missense mutations and 3 nonsense. Mismutations were in different manner. There were also 6 heterozygous transversion polymorphisms in exons. Six were introngenicmutations (introns 65626, 70387, 70817). Wefound 10mutationswith differentmanner in FGF23 gene. Two were defined previously but remaining 8 were novel mutations. Threewere in intronic region near exon 2. We sequenced all exons and intronic regions near exon-exon junction regions ofFGFR3gene. Wefound 22mutations with differentmanner. Sixweredefinedpreviously and remaining 16 were novel mutations. Eight of them were in intronic region near exon 11 and the last 2 were in noncoding exonic region of exons. One was in the exon-exon junction region between exon 11 and 12, therefore this mutation might be preventing splicing of this intron. Because the incidence of CKD late stage 3 is around 8% but the incidence of SS is around 0.5% in CKD, these gene mismutations might be responsible for bone deformities such asMcCune-Albright syndrome and achondroplasias. Although our patients were not resembling any of them, they could be in between, and SS might be a combination-compulsion of bone dysplasias-hereditary osteodystrophies and CKD. (C) 2015 by the National Kidney Foundation, Inc. All rights reserved.
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    The Effects of Cinacalcet Treatment on Bone Mineral Metabolism, Anemia Parameters, Left Ventricular Mass Index and Parathyroid Gland Volume in Hemodialysis Patients with Severe Secondary Hyperparathyroidism
    (2016) Torun, Dilek; Yildiz, Ismail; Micozkadioglu, Hasan; Nursal, Gul Nihal; Yiğit, Fatma; Ozelsancak, Ruya; 26787561
    The aim of this study was to investigate the effects of cinacalcet therapy on anemia parameters, bone mineral metabolism, left ventricular mass index (LVMI) and parathyroid gland volume in hemodialysis (HD) patients with secondary hyperparathyroidism. Twenty-five HD patients (M/F: 11/14, mean age: 45.2 +/- 17.9 years, mean HD duration: 96.4 +/- 32.7 months) were included in this prospective pilot study. The indication to start calcimimetic therapy was persistent serum levels of parathyroid hormone (PTH) > 1000 pg/mL, refractory to intravenous (i.v.) vitamin D and phosphate-binding therapy. The initial and one-year results of adjusted serum calcium (Ca+2), phosphate (P), Ca x P product, PTH, hemoglobin (Hb) and ferritin levels, transferrin saturation index (TSAT), median weekly erythropoietin (EPO) dose, LVMI, and parathyroid volume by parathyroid ultrasonography were determined. There were no differences between pre-and posttreatment levels of serum Ca+2 (P = 0.853), P (P = 0.447), Ca x P product (P = 0.587), PTH (P = 0.273), ferritin (P = 0.153) and TSAT (P = 0.104). After 1 year of calcimimetic therapy, the Hb levels were significantly higher than the initial levels (P = 0.048). The weekly dose of EPO decreased with no statistical significance. The dose of cinacalcet was increased from 32.4 +/- 12.0 to 60.0 +/- 24.4 mg/day (P = 0.01). There were no differences between the pre-and post-treatment results regarding weekly vitamin D dose, parenteral iron dose, LVMI and parathyroid volume. The results of our study suggest that cinacalcet therapy might have an additional benefit in the control anemia in HD patients.
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    Severe hypocalcemia and hypercalciuria due to contrast medium in the course of acute myocardial infarction
    (2016) Coner, Ali; Genctoy, Gultekin; Balcioglu, Serhat; Muderrisoglu, Haldun; 0000-0002-5711-8873; 0000-0002-5145-2280; 0000-0002-9635-6313; 27389156; ABD-7321-2021; AAJ-5551-2021; AAG-8233-2020