Primaire ectopische mineralisatieaandoeningen: van (vaat)verkalking tot syndroom

Abstract

Primary ectopic mineralization disorders: from (vascular) calcification to syndrome Ectopic mineralization is a pathologic process resulting in inappropriate biomineralization of soft tissues such as the skin and blood vessels. It can be found in frequent western disorders such as chronic kidney disease and diabetes mellitus, though it is also part of a spectrum of primary genetic mineralization disorders such as pseudoxanthoma elasticum (PXE). These heritable disorders are associated with significant morbidity and mortality due to extensive ectopic mineralization in a variety of tissues. Early diagnosis and multidisciplinary treatment and follow-up in a reference center is of the uttermost importance in order to prevent severe or life-threatening complications. In this review, the clinical presentation, diagnosis and management of primary ectopic mineralization disorders is described.