Bone Abstracts

Biographical DetailsCraig B LangmanProfessor Craig B Langman, is the Isaac A Abt, MD, Professor of Kidney Diseases at the Feinberg School of Medicine, Northwestern University, Head of Kidney Diseases at the Ann and Robert H Lurie Children’s Hospital of Chicago. His research focuses on the basic and clinical expression of inherited or acquired d...

Chronic kidney disease (CKD) is defined according to the presence of kidney damage and level of kidney function – irrespective of the type of kidney disease (diagnosis). Among individuals with chronic kidney disease, the stages are defined based on the level of glomerular filtration rate. From infancy through young adulthood, the major causes of CKD arise from congenital abnormalities of the kidneys and urinary tract (CAKUT), acquired or congenital forms of nephrotic synd...

Classical vitamin D biology relates the active hormone, 1,25-dihydroxvitamin D3, to promotion of calcium homeostasis through actions on the intestine and bone, and regulation of parathyroid hormone production and release. Added to this classical action of vitamin D is the up-regulation of FGF23 production and release by osteocytes as a means of regulation of circulating levels of vitamin D by reducing kidney synthesis of 1,25-dihydroxvitamin D3 and increa...

Background: Pamidronate is FDA approved only in adults. It is frequently used off-label in the treatment of pediatric bone diseases, such as osteogenesis imperfecta, juvenile osteoporosis, and osteopenia in nonambulatory patients with cerebral palsy. The use of pamidronate in these conditions is relatively common, but there may be more to be understood about its role in other rare pediatric bone diseases.Presenting problem: Jansen’s Metaphyseal Chon...

Objective: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by bone mineralization defects and osteomalacia, as well as systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease seve...

Biographical DetailsAssociate Professor Craig Munns is a Senior Staff Specialist in Bone and Mineral Medicine and Endocrinology at the Children’s Hospital at Westmead and Conjoint Associate Professor in the Sydney Medical School at the University of Sydney, Australia. Following the completion of his Paediatric and Endocrinology training at The Royal Children’s Hospital, Brisbane...

Osteoclast-poor autosomal recessive osteopetrosis is characterised by susceptibility to fracture despite high bone mineral density as a consequence of an absence of osteoclasts. One of the 12 receptor activator of NF-κB (RANK) mutations associated with this condition is a frameshift mutation encoding a protein that is truncated within the extracellular, N-terminal domain (R110Pfs). We investigated the effect of this mutation on osteoclast formation, receptor localisation ...

Introduction: Niemann–Pick disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. It is caused by mutations of genes which products are involved in the metabolism of sphingolipids. Their dysfunction causes sphingomyelin to accumulate in different organs which leads to progressive multisystemic disorder. Types A and B NPD are caused by mutations in sphingomyelin phosphodiesterase-1 gene with deficiency of acid sphingomyelinase (ASM). Types C and D NP...

Bisphosphonates are the mainstay of medical therapy in the fracturing child with osteoporosis. The majority of the data in children pertains to i.v. pamidronate use in children and adolescents with osteogenesis imperfecta (OI), where pamidronate has been associated with improvements in bone mineral density, cortical thickness, vertebral shape, pain, mobility and height.1 Side-effects of pamidronate including acute phase response to the initial dose and retardation o...

Associate Professor Munns is a Senior Staff Specialist in Bone and Mineral Medicine and Endocrinology at the Children’s Hospital at Westmead and Conjoint Associate Professor in the Sydney Medical School at the University of Sydney, Australia. Following the completion of his Paediatric and Endocrinology training at The Royal Children’s Hospital, Brisbane, Australia, Associate Professor Munns was Clinical Associate in Genetic and Metabolic Bone Disor...