Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p061 | (1) | ICCBH2017

Renal tubular acidosis with an elevated urinary β-2 microglobulin in a boy presenting with sporadic hypophosphataemic rickets and intellectual disability (Dent's Disease)

Brown Justin , Johnstone Lilian , Yeung Alison , Rodda Christine

Background: X linked hypophosphataemic rickets is the commonest cause of renal phosphate wasting, however sporadic cases may warrant additional investigations to exclude less common causes, as exemplified by our case.Presenting problem: A 3 year 7 month boy was referred for assessment and ongoing management of rickets and short stature (height less than 1st %.) He originally presented with leg bowing and waddling gait from the age of 12 months...

ba0004oc19 | (1) | ICCBH2015

The VINE study: vitamin D in newborns: a randomized controlled trial comparing daily and bolus supplementation in breastfed infants of vitamin D deficient mothers

Huynh Julie , Lu Thao , Liew Danny , Doery James , Tudball Ronald , Jona Madeleine , Bhamjee Roisin , Rodda Christine

Objective: There is no published data to demonstrate the efficacy and safety of a single bolus dose vitamin D in breastfed infants of vitamin D deficient mothers. We evaluated the efficacy and safety of this alternative approach in newborn infants <4 months of age.Method: This single centre study was conducted from Aug 2013 to May 2014. Of 307 pregnant women diagnosed with vitamin D deficiency (25OHD<50 nmol/l) 70 were recruited. Their newborn in...

ba0006lb10 | (1) | ICCBH2017

Effects of long-term sedentary behaviour on the cortical bone mass and distribution during growth: The HAPPY bone study

Duckham Rachel L , Rantalainen Timo , Rodda Christine , Timperio Anna , Hawley Nicola , Hesketh Kylie

Introduction: Whilst it is well-established that sedentary behaviour may increase the risk of paediatric obesity, and potentially result in early onset cardio-metabolic diseases such as type 2 diabetes and cardiovascular disease, there is less consensus about the potential detrimental effects that long-term sedentary behaviour may have on bone health during childhood.Purpose: To determine if long-term sedentary behaviour affects accrual of bone mass, str...

ba0006p065 | (1) | ICCBH2017

A novel form of congenital rickets due to a recurrent gain of function mutation in CYP3A4

Rodda Christine P , Levine Michael A , Roizen Jeffrey D , Javaid Muhammad K , Ebeling Peter R , Nguyen Hanh , Dewez Peter , Shaw Nicholas J

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...

ba0007p9 | (1) | ICCBH2019

Do lifestyle factors play a role on bone health in boys diagnosed with Autism Spectrum Disorder? Preliminary data from the Promoting bone and gut health in our children (PROUD) study

Duckham Rachel L , Hyde Natalie K , Brennan-Olsen Sharon L , Hesketh Kylie , Teo Wei-Peng , Rodda Christine , Walsh Adam , Laing Emma M , Lewis Richard D

Objective: Autism Spectrum Disorder (ASD) is associated with lower bone mass in children. Physical activity and nutrition influence bone pathophysiology, and differences in these lifestyle factors are observed between children with vs. without ASD; however, whether these factors contribute to bone differences is unknown. We examined if: 1) differences existed in bone mineral density (BMD), content (BMC), or bone geometry in boys with vs without ASD and 2) whether physical acti...