|
||
|
|
|
|
Meet the Professor Craig B Langman (Chicago, USA)
Disorders of mineral metabolism in children have an accompanying expression in bone. This may manifest as rickets, hyperparathyroid bone disease, adynamic bone disease, or osteoporosis. We will develop a pathophysiologic schema for abnormalities of serum calcium, phosphorus, and vitamin D metabolism, which lead uniquely to one of these bone disturbances. Hypercalcemia will be discussed as a consequence of mutations in the genes for the extracellular Ca-sensing receptor (eCaSR), in the PTH/PTHrp-Receptor-1, or as a consequence of elevated levels of 1,25-dihydroxyvitamin D. Normocalcemia with bone disease will include a discussion of idiopathic hypercalciuria and posited mutations in the VDR, CLCN5, or other genes. Hypocalcemia will involve a discussion of altered vitamin D metabolism from 1-alpha-hydroxylase mutations, acquired resistance from VDR mutations, disordered VDR-RXR heterodimerization, or eCaSR mutations. The role of FGF-23 in disorders of phosphorus metabolism in children will be highlighted, along with the resultant diversity of bone diseases. This seminar will involve audience participation for the construction of normal and abnormal pathways of metabolism, in addition to having the audience present their experience in diagnostic and therapeutic approaches to the disease entities discussed. Key educational goals
Target audience
Scientific Programme
Meet the Professor
Allied Health Professionals Session
|
||||||||||
|
|
||||||||||
|
|||||||||||
|
|||||||||||
