Bone Abstracts

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...

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: Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterised by congenital malformation of the great toes and progressive heterotopic endochondral ossification. The disease progresses with episodic flare-ups, resulting in disabling cumulative immobility. The discovery of the ACVR1 gene as the cause of FOP has allowed identification of therapeutic targets. Palovarotene, a retinoic acid receptor gamma agonist, is in phase 2 clinical trials.<...

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...

Background: Gorham Disease is a rare condition characterised by massive osteolysis. The pathophysiology is related to angio/lymphatic proliferation within bone. No genetic transmission has been identified and onset occurs in patients of all ages. Surgical fixation of the spine may be unsuccessful due to progressive osteolysis of bone surrounding the metalwork, or of the bone graft.Presenting problem: An 11 year-old boy presented with a 2 year history of ...

Objectives: i) To assess bone (BMC) by BIA in apparently healthy Indian children. ii) To generate percentile curves for BIA measured BMC by age/gender. iii) To investigate relationship between BMC measured by BIA and DXA in separate subset.Methods: In a multicentre study, 4154 children (2298 boys), 5–18 years underwent BMC assessment by BIA. BMC for age percentiles were computed using LMS method. In 41 children (not from the multicentre study) total...

Objective: Fractures represent a common injury during childhood and adolescence. Knowledge of epidemiology of fractures is crucially important for implementation of prevention strategies for target population. Our objective was to evaluate incidence of fractures in Indian children and adolescents and to investigate association of fractures with physical activity.Methods: Data on history of fracture, age, site of fracture and physical activity were collec...

Objective: Optimal intakes of calcium and milk are necessary in children and adolescents to facilitate not only mineralization but also growth in stature. Low intakes of calcium and also, of milk and milk products in Indian children have been reported. Hence, the objective was to study Indian children’s growth with respect to their calcium and dairy intakes.Methods: We studied 220 children (boys 104, age range 2–16 years). Data on their height,...

Objective: To describe changes in the muscle–bone unit, assessed as the ratio of bone mineral content (BMC) to lean body mass (LBM) at skeletal sites during puberty in Indian males and females, after adjusting for age and fat.Methods: Data on arm, leg and total body (less head) BMC, LBM and fat mass (FM) assessed by DXA for 888 apparently healthy children and adolescents (426 females), 5–17 years of age from a cross-sectional study used to gene...

Objective: In children, factors such as age and puberty are confounders when investigating associations of fat or lean with bone mineral content (BMC). Our aim was to assess influence of fat on BMC in overweight/obese (ow/ob) and normal weight (nw) children at different stages of puberty.Methods: Cross-sectionally, 244 children+adolescents (6–16 years) (73nw, 177ow/ob) were assessed (tanner staging (TS), body composition (DXA) (total body BMC, lean ...