Bone Abstracts

Arterial calcification is now considered as an actively regulated process resembling osteogenesis orchestrated by a number of systemic or constitutively expressed mediators. Genetic studies of rare inherited syndromes have identified key regulators of arterial calcification. Based on the pathogenic principles causing the diseases these can be classified into three groups:i) Disorders of an increased extracellular inorganic phosphate/inorganic pyrophospha...

Biographical DetailsFrank RutschFrank Rutsch is a consultant and Associate Professor in Pediatrics at Münster University Children’s Hospital, Münster, Germany. He graduated from Münster University Medical School in 1992 and took part in the Pediatric residency program in Dresden University and Dortmund Municipal Hospital, Germany...

Introduction: ENPP1 Deficiency manifests as GACI type 1 in infants, a disorder characterized by extensive arterial calcifications and stenoses, often fatal in utero or in early infancy. Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. ABCC6 Deficiency also manifests as GACI type 2 in infants and is clinically indistinguishable from GACI type 1. Anima...