Rare Diseases and Orphan Drugs

Disorders of Calcium & Phosphate Homeostasis

Calcium and Phosphate Homeostasis is of major significance to a large number of hysiological processes thereby affecting several organ systems generally bone, muscles, order, brain with consequences on quality of life and threat of habitual disability.

These conditions frequently manifest with unspecific symptoms (like seizure, failure to thrive) leading to a severe detention in opinion. For several of these conditions, treatment options are available (or under development) if cases are diagnosed. Still, it's only lately that long- term consequences and burden of the conditions have been characterized.

Establishing databases on these rare conditions is pivotal. For calcium (Ca) and phosphate (Pi), 3 sub thematic groups are linked grounded on the pathophysiology of the conditions, the multidisciplinary care involved and long- term consequences as well as the different exploration approaches. The PTH dependent ambience covers complicated cases of hyperparathyroid hypercalcemia which cannot be treated by simple parathyroidectomy and inheritable runs prepping to hyperparathyroidism. Hypocalcemia enfold hypoparathyroidism, autosomal dominant hypocalcemia as well as vitamin D dependent richets (VDDR). Indisposition of phosphate imbalance share divergent bone and teeth structure, as well as a dysregulation of the FGF23 endocrine system.