Bone Abstracts

Objectives: Vitamin D is essential for bone modeling/remodeling but the relationship between vitamin D status, bone mineral density (BMD) and bone quality parameters remains controversial especially in adolescent population. The aims of this study wase to evaluate the vitamin D status and its correlation with BMD and bone quality parameters among adolescent girls in Hong Kong where information is lacking.Methods: 156 adolescent girls (11–15 years ol...

Objectives: Guidelines for treatment of vitamin D deficiency (VDD) vary. We aimed to review the range of treatment regimens for VDD used locally and variation in responses.Methods: We conducted a retrospective review of the records of consecutive patients referred to a Children’s Bone Disease Service with a putative diagnosis of VDD over a 14-month period. Data collected includes vitamin D type used, dose and duration of treatment, and pre- and post...

Background: Genetic disorders of mineral metabolism causing nephrolithiasis and bone abnormalities are uncommon and have a varied clinical spectrum. Hypophosphataemic rickets with hypercalciuria (HHRH) is a rare autosomal-recessive condition, typically presenting with severe rickets and hypophosphataemia. Milder forms can present with hypercalciuria and nephrolithiasis without bone disease. The underlying pathophysiology is due to mutations in the SLC34A3 gene, which encodes t...

Introduction: Optimal 25(OH)D serum level is very important for bone health and calcium–phosphate homeostasis as well as for optimal function of many organs and tissues. The consequences of vitamin D deficiency are mineralization defects, which may lead to osteomalacia in the long-term, and muscle weakness, causing falls and fractures.Objectives: The aim of the research is to determine the frequency of vitamin D deficiency and it’s influence on...

Biographical DetailsDr Lynda F Bonewald is a University of Missouri, Kansas City (UMKC) Curators Professor, the Lefkowitz Professor of Oral and Craniofacial Sciences, and Director of the Mineralized Tissue/Bone Biology Research Program at the UMKC School of Dentistry, Director of the UMKC Center of Excellence in the Study of Dental and Musculoskeletal Tissues and UMKC Vice Chancellor for ...

Background: Children with special needs may be greater risk of vitamin D deficiency due to decreased mobility and outdoor play, concomitant medications that increase catabolism of vitamin D, reduced nutritional intake and low body weight. Gastrostomy-fed children receiving a nutritionally complete formula may still be at risk of vitamin D deficiency due to the above factors.Objective: The objective of this study is to assess the vitamin D status of speci...

Background: A 3 month-old boy was born at term, to non-consanguineous parents by spontaneous vaginal delivery, in good condition, weighing 4.19 kg. Newborn examination, including eyes, was normal prior to discharge. He has two older brothers in good health.Presenting problem: He was admitted at 7 days of life with focal seizures and hypocalcaemia (1.5 mmol/l), hypomagnesaemia (0.6 mmol/l), hyperphosphataemia (3.7 mmol/l) and inappropriately low parathyro...

Introduction: Fibroblast growth factor (FGF23) is a hormone derived from osteoblasts and osteocytes being involved in calcium and phosphate homeostasis, where serum iron (S-Fe) has been suggested as a potential mediator of FGF23 regulation. The aim was to determine whether iron status is a determinant of FGF23 in elderly men.Methods: The MrOS (osteoporotic fractures in men is a population based study of elderly men, in the Gothenburg part, (median age of...

Objectives: Single nucleotide polymorphisms (SNP) in genes related to vitamin D metabolism have been associated with 25-hydroxyvitamin D (25(OH)D) status, but these relationships have not been examined in pregnancy or following antenatal vitamin D supplementation. We assessed whether SNPs in DHCR7 (7-dehydrocholesterol reductase), CYP2R1 (25-hydroxylase), CYP24A1 (24-hydroxylase) and GC (Vitamin D binding protein) were associated with the re...

Background: Valproic Acid (VPA) is a commonly used antiepileptic drug in the management of childhood epilepsy. Renal dysfunction presenting as Fanconi syndrome (FS) is a rare side effect of VPA use. This can lead to renal tubular phosphate loss, resulting in hypophosphataemic rickets, low bone mass and fractures. We report 6 children with VPA induced FS from three tertiary paediatric metabolic bone centres across England.Presenting problem: P1: Global de...