Bone Abstracts

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...

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...

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...

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...