Browsing by Author "Atay, Zeynep"

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    Comparison of treatment regimens in management of severe hypercalcemia due to vitamin D intoxication in children
    (Galenos Publ House, 2018-10-23) Demir, Korcan; Döneray, Hakan; Kara, Cengiz; Atay, Zeynep; Çetinkaya, Semra Çaǧlar; Çayır, Atilla; Anık, Ahmet; Uçaktürk, Seyit Ahmet; Yılmaz, Gülay Can; Ergür, Ayça Törel; Kendirci, Mustafa; Aycan, Zehra; Bereket, Abdullah; Aydın, Murat; Orbak, Zerrin; Özkan, Behzat; Eren, Erdal; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; 0000-0002-1684-1053; AAM-1734-2020; 36113153400
    Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level > 10.5 mg/dL) due to vitamin D intoxication [serum 25-hydroxyvitamin D (25(OH)D) level > 150 ng/mL] who were treated in pediatric endocrinology clinics. Results: Seventy-four children [median (range) age 1.06 (0.65-1.60) years, 45 males (61 %) from II centers] were included. High-dose vitamin D intake was evident in 77% of the cases. At diagnosis, serum calcium, phosphorus, alkaline phosphatase, 25(OH)D and parathyroid hormone concentrations were 15 +/- 3.2 mg/dl., 5.2 +/- 1.2 mg/dL, 268 +/- 132 IU/L, 322 (236-454) ng/ml, and 5.5 (3-10.5) pg/mL, respectively. Calcium levels showed moderate correlation with 25(OH)D levels (r(s) = 0.402, p <0.001). Patients were designated into five groups according to the initial specific treatment regimens (hydration-only, prednisolone, alendronate, pamidronate, and combination). Need for another type of specific drug treatment was higher in children who initially received prednisolone (p <0.000). Recurrence rate of hypercalcemia was significantly lower in children who were treated with pamidronate (p=0.02). Conclusion: Prednisolone is less effective in the treatment of children with severe hypercalcaemia secondary to vitamin D intoxication and timely implementation of other treatment regimens should be considered.
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    Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort
    (Endocrine Soc, 2016-01) Güran, Tülay; Buonocore, Federica; Saka, Nurçin; Özbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Baş, Firdevs; Darcan, Sükran; Bideci, Aysun; Güven, Ayla; Demir, Korcan; Akıncı, Ayşehan; Büyükinan, Muammer; Aydın, Banu Küçükemre; Turan, Serap; Ağladıoğlu, Sebahat Yılmaz; Atay, Zeynep; Abalı, Zehra Yavaş; Çatlı, Gönül; Yüksel, Bilgin; Akçay, Teoman; Yıldız, Metin; Özen, Samim; Doger, Esra; Demirbilek, Hüseyin; Uçar, Ahmet; Işık, Emregül; Özhan, Bayaram; Bolu, Semih; Özgen, İlker Tolga; Suntharalingham, Jenifer P.; Achermann, John C.; Tarım, Ömer; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji ve Diyabet Anabilim Dalı.; 6701427186
    Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.