ESPE Abstracts

Ectopic calcifications rarely manifest in the pediatric population. However, especially when present in arteries calcifications are often associated with severe complications. Ectopic calcification can be viewed as a phenomenon arising in a state of imbalance between systemic activators and inhibitors of calcification. Within recent years, research has led to the discovery of intricate networks regulating the systemic phosphate/pyrophosphate ratio, which seems to play an important role in this respect. I will present an overview of the few inherited monogenetic disorders presenting with early onset ectopic calcification. These disorders can be classified according to the function of the respective disease gene into disorders caused by an altered phosphate/pyrophosphate metabolism, interferonopathies, Gaucher Disease type III and Keutel Syndrome. The finding of ectopic calcification in early life should alert the clinician and prompt further genetic work-up to define the underlying genetic defect, to establish the diagnosis and to enable appropriate therapy.