Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p159 | (1) | ICCBH2013

Novel SLC34A3 mutation causing mild hypophosphataemia, hypercalciuria and nephrolithiasis but no clinical or radiological evidence of rickets

Steele Caroline , Bradbury Mark , Mughal M Zulf

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...

ba0004p181 | (1) | ICCBH2015

Short stature in osteogenesis imperfecta: consider alternative diagnoses

Steele Caroline , Sultan Wajid , Bishop Nick , Ehtisham Sarah

Background: A 15 year old boy with antenatally diagnosed osteogenesis imperfecta (OI) was reviewed following concerns about poor linear growth, lack of pubertal development and persistent deciduous teeth. He had a history of crush fractures of L1–L2 and previous intra-medullary rodding of his right femur and had been on oral bisphosphonates (Risedronate 70 mg once weekly). He was significantly short (height SDS −4.9), substantially below his genetic potential (targe...