Bone Abstracts

Kit ligand/c-Kit receptor tyrosine kinase complex has been implicated as a target for bone remodeling process. Loss of function mutation in c-Kit causes low bone mass in KitW/W-v (W/Wv) mice. However, these mice are sterile and it is unclear whether the observed skeletal phenotype is secondary to sex hormone deficiency. To address this question, the skeletal phenotype of KitW...

Background: Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Typical signs include muscle hypotonia, dehydration, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. IIH should be distinguished from other causes of hypercalcemia in infancy. Treatment includes low calcium diet, glucocorticoids, furosemide, calcitonin. Pamidron...

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...

see PP495....

Paget’s disease of bone (PDB) is a common metabolic bone disease characterised by increased and disorganised bone remodelling affecting one or more skeletal sites. Bisphosphonates are highly effective at suppressing bone turnover in PDB but it remains unclear whether greater suppression of bone turnover improves clinical outcome. In the PRISM study, we previously reported that PDB patients randomised to ‘intensive’ treatment aimed at normalising alkaline phospha...

see P475....

Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency leads to extracellular excess of inorganic pyrophosphate, a bone mineralization inhibitor. Here, we report the validity and reproducibility of a novel scale to quantify HPP-specific radiographic changes in pediatric patients.The Radiographic Global Impression of Change (RGI-C) ...

Objectives: To investigate whether bone health outcomes (volumetric bone mineral density, geometry and strength) is associated with adiposity and muscle in late childhood.Methods: Design: Population-based cross-sectional study nested within the Longitudinal Study of Australian Children. Participants: 11–12 year-olds attending the Child Health CheckPoint physical module. Exposures: Measures of adiposity (BMI z-score, fat ma...

Hypophosphatasia (HPP) is a rare genetic disease characterised by low tissue-nonspecific alkaline phosphatase activity, causing defective mineralisation of bone and teeth. There is limited data on the measurement of bone mineral density (BMD) and body composition in these children.Objectives: To assess whether BMD and lean body mass (LBM) in treatment naïve children with HPP correlate with functional outcomes using the 6-minute walk test (6MWT)....

Background: Hypercalcemia in childhood is rare, can be of various origin and might go unrecognized until severe signs appear. We demonstrate hypercalcemia of different causes in two infants.Case no 1.: 5-month old girl with failure to thrive, constipation, muscle hypotonia, dehydration, where total calcaemia peaked to 4.25 mmol/l. Low calcium diet, application of glucocorticoids and furosemide resulted in a drop in calcaemia to values below 3 mmol/l and ...