Bone Abstracts

Objectives: Metabolic bone disease of prematurity (MBDP) is a multi-factorial condition characterised by a deficiency of calcium (Ca) and phosphate (PO4) mineral for incorporation into the organic bone matrix. Given the lack of clear guidelines, we conducted a survey across the United Kingdom of current practices, inviting both neonatologists and paediatric metabolic bone disease specialists (PMBS).Methods: A web-based questionnaire survey was disseminat...

Background: Cerebral Palsy (CP) is the most common physically disabling childhood motor disorder. Fractures in this group of children are common, however, prevalence and risk factors associated with fractures in children with CP in the UK is not known.Aims: The aims of this cross-sectional survey were 1) to determine the prevalence of fractures in children with moderate-to-severe CP in Greater Manchester 2) to determine the common sites of fracture and 3...

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: Familial hypocalciuric hypercalcaemia type 3 (FHH3) is a genetically heterogenous autosomal dominant disorder caused by loss-of-function mutations in the AP2S1 gene. This gene encodes the alpha-2 subunit of the adaptor protein-2 complex, which facilitates endocytosis of plasma membrane constituents such as G-protein coupled receptors.Objective: It has been suggested that FHH3 may be associated with cognitive deficits (1). We assessed...

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...

Background: Hypophosphatasia (HPP) is a disorder of bone mineralisation caused by deficiency of alkaline phosphatase (secondary to ALPL gene mutations), causing accumulation of inorganic pyrophosphate (PPi) thus inhibiting bone mineralisation. The perinatal form presents with severe manifestations at birth. Most severe skeletal manifestations are detectable by 20 weeks gestational age (GA) anomaly scan, and antenatal care within the UK practices routine detailed anoma...

Objectives: Randomised controlled trials (RCTs) of vitamin D to reduce the incidence of infections among children have yielded variable results (Holland, 2012; Camargo, 2012). We performed a RCT of supplementation with vitamin D3 (cholecalciferol) along with calcium or supplementation with zinc in order to assess their effect on the incidence of infections in rural Indian school children.Methods: A double-blind, placebo-controlled RCT was conducted on 46...

Objectives: We have previously described biochemical evidence of resistance to PTH in Indian toddlers, which reversed on calcium supplementation. We performed a post-hoc analysis on data from an RCT of vitamin D and calcium supplementation, which was designed to assess if supplementation would reduce infection rate in undernourished school children with adequate sun exposure. Specifically we investigated the effect of oral vitamin D and calcium supplementation on biochemical p...

Objectives: High prevalence (20%) of adolescent pregnancy (AP) (1) is observed in India. Reports suggest that pregnancy during adolescence may have deleterious effects on peak bone mass (2). Few reports have described the long-term effects of history of AP on bone. The objective of this study was to compare bone density and geometry of premenopausal women having delivered first child during adolescence (before age of 19 years) or after 19 years.Methods: ...

Objectives: Patients with beta Thalassemia have been reported to have low bone mass; poorly chelated patients are likely to be at an even higher risk. Pubertal delay, hypogonadism, and reduced physical activity and sunlight exposure are likely to be additional contributors to poor bone health and increased fracture risk. The objective of our study was to assess the prevalence of fractures in Indian underprivileged, poorly chelated thalassaemic children.M...