Bone Abstracts

Osteogeneses Imperfecta (OI) is a skeletal dysplasia which affects collagen biosynthesis. As with other chronic conditions it is recognised that the heterogeneity of perspectives between parents and health care professionals (HCP) can alter the course of a child’s health outcomes irrespective of the child’s disease. This qualitative study was employed to explore a mother’s lived experience of having a child with OI.Objectives: To gain impr...

Background: Osteoporosis-pseudoglioma (OPPG) syndrome is an autosomal recessive disorder characterised by severe juvenile osteoporosis and congenital or infancy-onset visual loss. OPPG is caused by loss of function mutations in LDL receptor-related protein 5 (LRP5) gene. We present a 13-year-old child with a homozygous mutation in LRP5 and low bone mass but without visual loss.Presenting problem/clinical management: This child presented with multiple low...

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...

Objective: In 2018 we started treating children with X-linked hypophosphataemic rickets (XLH) with burosumab, initially as part of an industry-sponsored early access program. We present what we did, the barriers to implementation and broader lessons for the introduction of treatments for rare bone diseases in the future.Method: Firstly, we identified suitable patients under the age of 18 years with XLH. For convenience we arranged dedicated clinics in wh...

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria.We report our experience with such a patient w...

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...

Lysyl oxidase (LOX) catalyzes the cross-linking of collagens and elastin in the extracellular matrix, thereby regulating the tensile strength of many tissues, such as in bone. In cancer, LOX plays a critical role in facilitating tumor growth and metastasis formation in soft tissues. In this study, we first showed by immunohistochemistry using patients’ tumor specimens, that LOX was expressed in the desmoplastic tumor stroma of pairs of colorectal carcinomas and their matc...

Background: Breast cancer clinical trials have shown an enhanced anti-tumour activity of bone-targeted agents in postmenopausal patients. We have reported that zoledronic acid (ZOL) decreases serum levels of the tumour promoter follistatin in postmenopausal women and also inhibits expression of follistatin by breast tumour cells both in vitro and in vivo. We hypothesised that inhibin-A (InA) and ZOL may be altering bone levels of follistatin and its bound tum...

Background: In this case report, we introduce a patient presenting a potentially unknown syndrome with skeletal involvement.Presenting problem: At the time of physical examination, the boy was 10 years old, displaying short stature (z-score=−4.4), hearing loss, visual impairment, delayed eruption of teeth and severe dental caries, dysmorphic facial features, micrognathia, mild platyspondyly and genu valgum. Although he appears to have normal intell...

Background: Addressing the needs of a child with Severe, Complex or Atypical Osteogenesis Imperfecta (SCAOI) requires a full MDT approach to enable the child to access their environment and meet their true potential. MDT input is essential in ensuring the delivery of medicine, participation in meaningful activity and supporting of the functioning of the child and family in complex systems.Presenting problem: Osteogenesis Imperfecta (OI) impacts upon all ...