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    Epidemiologic Features of Type 1 Diabetic Patients between 0 and 18 Years of Age in İstanbul City
    (2015) Darendeliler, Fatma Feyza; Günöz, Hülya; Baş, Firdevs; Bundak, Rüveyde; Neyzi, Olcay; Demir, Fikri; Saka, Nurçin
    Objective: To evaluate the epidemiologic, clinical and laboratory characteristics of a group of children with type 1 diabetes mellitus (T1DM) living in a Turkish city. Methods: The records of 395 (boys/girls: 199/196) children with newly diagnosed T1DM hospitalized in the years 1985-2004 were evaluated retrospectively. The data were assessed by gender and age subgroups (<=5, 6-10 and >=11 years).Results: Mean age of children at diagnosis was 8.1±4.1 years. At T1DM onset, the number of children <=5, between 6-10 and >=11 years old was 110 (27.9%), 147 (37.2%) and 138 (34.9%), respectively. The patients were mostly diagnosed at ages 6-8 years (24.1%), followed by cases aged 3-5 years (22.0%). Polyuria and polydipsia were the most common symptoms (94.7%). Mean duration of symptoms was 21.5±18.6 days. Although the patients mostly presented in autumn (30.7%), no season-related significant differences were found. The frequency of ketoacidosis was relatively high (48.5%). When compared to boys, the girls experienced higher rates of ketoacidosis (55.1% vs. 41.7%, p=0.042); had a higher frequency of antithyroid peroxidase antibodies (11.7% vs. 4.2%, p=0.049) and higher insulin requirement (0.89±0.41 vs. 0.77±0.36 IU/kg, p=0.005). Cases with a family history of T1DM were more likely to have anti-endomysial antibodies (42.9% vs. 8.1%, p=0.027) and higher initial blood glucose levels (510.5±145.0 vs. 436.1±156.5 mg/dL, p=0.005).Conclusion: The findings possibly indicate a decreasing age of T1DM onset. The high frequency of ketoacidosis at presentation is noteworthy. Girls had higher rates of ketoacidosis, higher frequency of anti-thyroid antibodies and higher insulin requirements as compared to boys. Patients with a family history of T1DM had higher initial glucose levels and higher frequency of antiendomysial antibodies
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    Öğe
    Nationwide Turkish cohort study of hypophosphatemic rickets
    (Galenos Yayincilik, 2020) Şıklar, Zeynep; Turan, Serap; Bereket, Abdullah; Baş, Firdevs; Güran, Tülay; Akberzade, Azad; Abacı, Ayhan; Demir, Korcan; Böber, Ece; Özbek, Mehmet Nuri; Kara, Cengiz; Poyrazǒglu, Şükran; Aydın, Murat; Kardelen, Aslı Derya; Tarım, Ömer Faruk; Eren, Erdal; Hatipoǧlu, Nihal; Büyükinan, Muammer; Akyürek, Nesibe; Çetinkaya, Semra Çaǧlar; Bayramoǧlu, Elvan; Eklioǧlu, Beray Selver; Uçaktürk, Ahmet; Abali, Saygin; Gökşen, Damla; Kör, Yilmaz; Ünal, Edip; Esen, İhsan; Yıldırım, Ruken; Akın, Önur; Çayır, Atilla; Dilek, Emine; Kırel, Birgül; Anık, Ahmet; Çatlι, Gönül; Berberoǧlu, Merih
    Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7±2.4 years. During the first 3-years of treatment (n=91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were-2.38,-2.77,-2.72,-2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p>0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year PTH was higher. However, higher treatment doses of phosphate and calcitriol were found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.