ESPE2024 Poster Category 2 Late Breaking (107 abstracts)
Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study
Atilla Cayir 1 , Serap Turan 2 , Beray Selver Eklioğlu 3 , Elvan Bayramoğlu 4 , Edip Unal 5 , Melek Yildiz 6 , Sezer Acar 7 , Elif Eviz 8 , Fatma Dursun 9 , Ayberk Türkyılmaz 10 , Özge Köprülü 7 , Beyhan Özkaya 7 , Sare Betül Kaygusuz 2 , Merve Cantürk 1 , Ayşe Sena Dönmez 1 , Ihsan Turan 11 , Aslı Derya Kardelen Al 6 , Muammer Buyukinan 12 , Can Aydın 13 , İsmail Dündar 14 , Heves Kırmızıbekmez 9 , Emine Çamtosun 14 , Berna Eroğlu Filibeli 15 , Nesibe Akyürek 16 , Melikşah Keskin 17 , Serkan Bilge Koca 18 , Behzat Özkan 7 , Abdullah Bereket 2 & Huseyin Demirbilek 19
1Erzurum Traning and Research Hospital, Erzurum, Turkey. 2Marmara University, Faculty of Medicine, Pediatric Endocrinology, Istanbul, Turkey. 3Departments of Pediatric Endocrinology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey. 4Department of Pediatric Endocrinology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Istanbul, Turkey. 5Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey. 6İstanbul University, İstanbul Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Istanbul, Turkey. 7Department of Pediatrics, Division of Pediatric Endocrinology, Dr. Behçet Uz Pediatric Diseases and Surgery training and Research hospital, İzmir, Turkey. 8Şanlıurfa Eyyübiye Traning and Research Hospital, Pediatric Endocrinology, Şanlıurfa, Turkey. 9Department of Pediatric Endocrinology, SBU Umraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey. 10Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. 11Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey. 12Department of Pediatric Endocrinology and Diabetes, University of Health Sciences, Konya City Hospital, Konya, Turkey. 13Adıyaman Traning and Research Hospital, Pediatric Endocrinology, Adıyaman, Turkey. 14İnönü University Faculty of Medicine, Department of Pediatric Endocrinology, Malatya, Turkey. 15Izmir City Hospital, Pediatric Endocrinology, İzmir, Turkey. 16Department of Pediatric Endocrinology, Başkent University Konya Training and Research Hospital, Konya, Turkey. 17Department of Pediatric Endocrinology, Pediatric Health and Disease Training and Research Hospital, Dr. Sami Ulus Obstetrics and Gynecology, Ankara, Turkey. 18Department of Pediatrics, Division of Pediatric Endocrinology, Kayseri City Education and Research Hospital, Kayseri, Turkey. 19Hacettepe University, Faculty of Medicine, Pediatric Endocrinology, Ankara, Turkey
Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.
Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohort of VDDRII from Turkey.
Method: In this nationwide multi-centre retrospective cross-sectional study we collected data using a web-based research network, CEDD-NET for paediatric endocrinology. Presenting symptoms, family history, gender, age of diagnosis, anthropometric measurements, presence of skeletal deformity, extraskeletal features, serum Ca, P, ALP, PTH, 25 (OH) vitamin D level, urinary ca/creatinine ratio and radiological findings were collected from the paediatric endocrine centres using a structured dataset disseminated through the CEDD-NET. Molecular genetics analysis results for whom a molecular genetic analysis result was applicable were collected. Clinical and biochemical characteristics and their relationship with molecular genetics analysis results, treatment strategies and long-term outcomes of patients were recorded.
Results: In total 49 patients (25 F, 24 M) with VDDRII were recruited. The median age of the diagnosis was 1.7 years. The most common presenting complaints were alopecia (n = 43), skeletal deformity (n = 32), short stature (n = 26), and delay in walking (n = 22). In molecular genetics analysis, 16 various variants (6 missense, 4 splice site, 4 nonsense and 2 frameshift) was detected in the VDR gene. Of those 7 mutations were novel. Exon-5 (n = 11) and exon-10 (n = 8) were the most common locations where a mutation was detected. All patients were treated using calcium (oral or intravenous), and a high dose of active vitamin D (calcitriol) (median daily dose of 295 pg/kg). After an average follow-up period of 6.4 years, patients’ height SDS was slightly improved from the baseline (-2.9±2.0) to the latest follow-up visit (2.3±2.0 SD) (P = 0.027). Nephrocalcinosis (n = 5) was reported as a long-term treatment complication.
Conclusion: In the present study, we reported 7 novel variants which expanded the mutational database for VDDRII. Alopecia, the well-known and most prevalent symptom of VDDRII, was also the most common clinical feature in our cohort. Although improvement in height SDS had reached a statistical significance during follow-up, short stature was still a prominent feature despite intensive therapy and high doses of calcitriol and related complications suggesting a need for a new targeted, safe and effective therapy for his group of patients.
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