hrp0097p1-226 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Hereditary Vitamin D Resistant Rickets (HVDRR) Case Series: Phenotype, Genotype, Conventional Treatment and Cinacalcet Therapy

Ahmad Noman , Aziz Sundus , AlEsaye Nabil

Background: Hereditary vitamin D resistant rickets (HVDRR) or vitamin-D dependent rickets type II is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene, causing end-organ resistance to the action of 1,25-dihydroxyvitamin D (calcitriol), thus resulting in the distinct characteristics of early-onset rickets, hypocalcemia, and secondary hyperparathyroidism. The currently accepted treatment modality is bypassing the affected r...

hrp0092p3-71 | Diabetes and Insulin | ESPE2019

Vitamin D Status in Egyptian Children with Newly-Diagnosed Type 1 Diabetes and its Relation to Autoimmune Destruction of Pancreatic Beta Cells

Laimon Wafaa

Background: The relationship between 25 hydroxy cholecalciferol (25OHD) deficiency and autoimmune diseases including type I diabetes (T1D) is an ongoing area of research interest. Furthermore, vitamin D seems to affect β cells through calcium regulation, as insulin release is a calcium-dependent process. The aim of the study was to screen for (25OHD) deficiency in children with clinical onset of T1D and study the correlation between its serum levels an...

hrp0089p1-p039 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

3-epi-25 Serum 25-hydroxyvitamin D3 Concentrations in Chilean Children between 5 and 8 Years

Arancibia Monica , Seiltgens Cristian , Poggi Helena , Allende Fidel , Solari Sandra , Peredo Soledad , Trincado Claudia , Garcia Hernan , Moore Rosario , Dapremont Ivonne , Andrade Daniela , Sifaqui Sofia , Ossa Jt , Campino Carmen , Carvajal Cristian , Fardella Carlos , Baudrand Rene , Sanchez Ximena , Martinez-Aguayo Alejandro

Background: The C3 epimer of 25-hydroxi-vitamin D3 (Epi25OHD3) is present in the pediatric and adult population and varies according to age. If it measurement is clinically relevant and should be considered to classify Vitamin D status is still unknown.Objective: To measure 25OHD3, 25-hydroxy-Vitamin D2 (25OHD2) and Epi25OHD3 and to compare them with PTH and calcemia.Method: Subjects: Children between 5 and 8 years of age born very...

hrp0092p1-176 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Genotype and Phenotype Characterization of Turkish Patients with Vitamin D Dependent Rickets Type IA

Kaygusuz Sare Betul , Ata Pinar , Kirkgoz Tarik , Abali Zehra Yavas , Eltan Mehmet , Tosun Busra Gurpinar , Menevse Tuba Seven , Helvacioglu Didem , Guran Tulay , Arman Ahmet , Bereket Abdullah , Turan Serap

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

hrp0086rfc2.3 | Bone & Mineral Metabolism | ESPE2016

Cord Vitamin D is Inversely Associated with Systolic and Diastolic Blood Pressure in 3-Year-Old Girls, but not in Boys

Larsen Sos Dragsbaek , Dalgard Christine , Christensen Mathilde Egelund , Andersen Louise Bjorkholt , Lykkedegn Sine , Christesen Henrik Thybo

Background: Vitamin D may have cardio-protective properties due to its biological actions. In children, observational studies linking actual vitamin D level and blood pressure have yielded conflicting results. Whether early life vitamin D exposure may elicit a programming effect on later systolic blood pressure (SBP) and diastolic blood pressure (DBP) needs further investigation.Objective and hypotheses: We investigated whether higher levels of cord 25-h...

hrp0084p3-647 | Bone | ESPE2015

Vitamin D Dependent Rickets Type 1A with Genetic Analysis in Three Chinese Children

Li Wenjing , Gong Chunxiu , Wei Liya

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...

hrp0089p3-p051 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Clinical and Genetic Evaluations of Three Patients with Vitamin D Dependent Rickets Type 1A

Kulikova Kristina , Kolodkina Anna , Vasiliev Eugeny , Petrov Vasily , Tiulpakov Anatoly

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...

hrp0086rfc2.1 | Bone &amp; Mineral Metabolism | ESPE2016

25-OH-Vitamin D Status in a Pediatric Population of Subjects Affected By Prader-Willi Syndrome Compared to Matched Obese Controls

Fintini Danilo , Pedicelli Stefania , Bocchini Sarah , Bizzarri Carla , Grugni Graziano , Cappa Marco , Crino Antonino

Background: Obesity is usually correlated with a higher prevalence of 25OH vitamin D (25OHD) deficiency. This might be due to either volumetric dilution of vitamin D in the large fat mass or its increased uptake by adipose tissue. To our knowledge, a systematic study on 25OHD levels in Prader-Willi syndrome (PWS), a genetic disorder associated with severe obesity, is not available.Objective and hypotheses: To analyze the 25OHD values in a population of p...

hrp0086rfc2.2 | Bone &amp; Mineral Metabolism | ESPE2016

Duration of Exclusive Breastfeeding: ‘Game Changer’ in a Sex-Specific Association Between Cord Vitamin D Status and Infant Linear Growth

Christensen Anna Mathilde Egelund , Beck-Nielsen Signe , Dalgard Christine , Larsen Sos Dragsbaek , Lykkedegn Sine , Christesen Henrik Thybo

Background: Vitamin D deficiency in children clinically manifests as rickets causing growth impairment and bowing of the long bones, potentially increasing the ratio between crown-rump length and length (CRL:L) or sitting height and height (SH:H).Objective and hypotheses: We investigated whether CRL:L in 19-months-olds and SH:H in 36-months-olds were lower with higher cord 25hydroxyvitamin D (25OHD).Method: Participants were includ...

hrp0082p2-d3-310 | Bone (2) | ESPE2014

Outcomes of Vitamin D Analogues and Phosphate Supplements in Patients With Hereditary Hypophosphatemic Rickets , Comparison With Non-Treated Patients

Boros Emese , Rothenbuhler Anya , Heinrichs Claudine , Brachet Cecile , Esterle Laure , Kamenicky Peter , Harvengt Pol , Brailly-Tabard Sylvie , Haidar Hazar , Gaucher Celine , Silve Caroline , Gossiome Charles , Wicart Philippe , Duplan Martin Biosse , Courson Frederic , Chaussain Catherine , Linglart Agnes

Background: Hereditary Hypophosphatemic Rickets (HHR) is caused by persistently elevated FGF23 resulting in renal phosphate wasting and decreased 25 vitamin D hydroxylation. Treatment with vitamin D analogues (VDA) has been added to phosphate supplements in the late seventies.Objective and hypotheses: Our objective was to evaluate the outcomes of VDA and phosphate supplements in adult patients with HHR in comparison with patients who did not receive VDA ...